Nanopublications LDF server

Matches in Nanopublications for { ?s <http://purl.org/dc/terms/description> ?o ?g. }

• NP145041.RAiv19vqALILTLBTkVk_bnzJeFoWJh86Espa8NBmbto6w130_assertion description "[These data suggest that selected genes of the SLC28 and SLC29 families are not only targets of HIV-1 infection, but might also contribute to the development of adipose tissue alterations leading to lipodystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145041.RAiv19vqALILTLBTkVk_bnzJeFoWJh86Espa8NBmbto6w130_provenance.
• NP145046.RAumQwEBO_xLdML2MhVKjH84c5VgcnJu__s32xUOxIhrc130_assertion description "[Adiponectin levels were significantly lower in HIV-infected men with lipodystrophy as compared to both HIV-infected and healthy controls; adiponectin deficiency may play a role in the insulin resistance associated with HIV lipodystrophy ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145046.RAumQwEBO_xLdML2MhVKjH84c5VgcnJu__s32xUOxIhrc130_provenance.
• NP145048.RAirtaX4W2thJ6NHDDcGrYByJJTBk9LwJXBWd2tsx3uFY130_assertion description "[Correlation between LMNA adipose expression and cytokine and adipogenic gene markers in HIV-positive patients, regardless of presence or absence of lipodystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145048.RAirtaX4W2thJ6NHDDcGrYByJJTBk9LwJXBWd2tsx3uFY130_provenance.
• NP145052.RAlgYAgN-PwTeDGZzDhQVEgjCIqoiJlXpa_NUQ4i4dFs4130_assertion description "[CD95-death-induces a signaling complex formation resulting in a robust sensitization for CD95-mediated apoptosis in autoimmune lipodystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145052.RAlgYAgN-PwTeDGZzDhQVEgjCIqoiJlXpa_NUQ4i4dFs4130_provenance.
• NP145056.RAljcA_Diq2GjHOkrsWLfyhJMLJGOEkKr66CW7z0cWuIA130_assertion description "[Mutation of a zinc-binding amino acid of PPARgamma leads to an altered protein-DNA binding pattern, resulting in a partial loss of function, which in turn is associated with partial lipodystrophy ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145056.RAljcA_Diq2GjHOkrsWLfyhJMLJGOEkKr66CW7z0cWuIA130_provenance.
• NP145057.RAopR0yPA2BmfocGtGJZ-8O7gM8Htrahtyv7JdFt88fcQ130_assertion description "[We identified a novel nonsense mutation of seipin at codon 275 (R275X)/four congenital generalized lipodystrophy patients, three were homozygous for R275X/seipin mutation was found in any exon in one patient.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145057.RAopR0yPA2BmfocGtGJZ-8O7gM8Htrahtyv7JdFt88fcQ130_provenance.
• NP145060.RAn4wAe1yVWKzXIUPC7_1UGdsCCxo5CSdQK_EATOduqu0130_assertion description "[mutations in AGPAT2 and Gng3lg are approximately equally represented in congenital generalized lipodystrophy ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145060.RAn4wAe1yVWKzXIUPC7_1UGdsCCxo5CSdQK_EATOduqu0130_provenance.
• NP145073.RAs-kWhdkF6T3PbUlYLRDYeApY4Jpxn-1eLGwvd-P1_Pc130_assertion description "[Ten novel CAPN3 mutations found in concentrated in several exons in Muscular Dystrophies patients ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145073.RAs-kWhdkF6T3PbUlYLRDYeApY4Jpxn-1eLGwvd-P1_Pc130_provenance.
• NP145078.RAhZoHldiTaa3vSbQaFt-axy8UFxDlR4MfYVPSpK7ge6w130_assertion description "[we report a genotype-phenotype correlation demonstrating that heterozygous glycine substitutions in the triple-helix domain of COL6A1 are dominant and responsible for a milder Ullrich scleroatonic muscular dystrophy phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145078.RAhZoHldiTaa3vSbQaFt-axy8UFxDlR4MfYVPSpK7ge6w130_provenance.
• NP145079.RAgmxT4veLbU6qWuhnKQipIWDvK3Pkiuvxd5elq0_3l90130_assertion description "[dominant mutations are common in Ullrich congenital muscular dystrophy (UCMD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145079.RAgmxT4veLbU6qWuhnKQipIWDvK3Pkiuvxd5elq0_3l90130_provenance.
• NP145082.RAs3-jRSMhC8nQWVn9cmCjf403zb_pWP2PpcSHmQKE0xw130_assertion description "[Study reports 10 unrelated patients with a Ullrich congenital muscular dystrophy clinical phenotype and de novo dominant negative heterozygous splice mutations in COL6A1, COL6A2 and COL6A3.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145082.RAs3-jRSMhC8nQWVn9cmCjf403zb_pWP2PpcSHmQKE0xw130_provenance.
• NP145083.RArdKKNDm9BvwxHhHRGZp2fHkWjb8ibSexGLfyL-9RKY4130_assertion description "[dominant mutations are common in Ullrich congenital muscular dystrophy (UCMD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145083.RArdKKNDm9BvwxHhHRGZp2fHkWjb8ibSexGLfyL-9RKY4130_provenance.
• NP145092.RAjciem-n3EvA5TeQ4eorz4_gBI5z_NuUTKhTzCGOemNc130_assertion description "[Deletions within the dystrophin gene account for > 70% of mutations leading to Duchenne and Becker muscular dystrophies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145092.RAjciem-n3EvA5TeQ4eorz4_gBI5z_NuUTKhTzCGOemNc130_provenance.
• NP145094.RAh1TIpbDCxAC-pVXWj9qJ15vyXCiXibKez5PEtblVn-I130_assertion description "[In 72 Duchenne and Becker Muscular Dystrophies (DMD/BMD) patients without gross gene defect, we encountered four unrelated cases with additional out-of-frame sequences precisely intercalated between two intact exons of the mature muscle dystrophin mRNA ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145094.RAh1TIpbDCxAC-pVXWj9qJ15vyXCiXibKez5PEtblVn-I130_provenance.
• NP145096.RAp4PfUfs2f30osFFfW40eEcRRQJBnKHvgrKoIwkWO680130_assertion description "[patients with mutations in the fukutin-related protein (FKPR) gene had congenital muscular dystrophy ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145096.RAp4PfUfs2f30osFFfW40eEcRRQJBnKHvgrKoIwkWO680130_provenance.
• NP145101.RAqgkCNm86BqTJUnIvMNPGHuo0rTfL3Lwmes1SmeLMy5E130_assertion description "[Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145101.RAqgkCNm86BqTJUnIvMNPGHuo0rTfL3Lwmes1SmeLMy5E130_provenance.
• NP145110.RAgIu-DAEg_N3VYnj2g0u2l8e9hGOCTl5hOJRpPeRuHKs130_assertion description "[pathogenesis of congenital muscular dystrophies, severity is related to ability to transport protein to ER ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145110.RAgIu-DAEg_N3VYnj2g0u2l8e9hGOCTl5hOJRpPeRuHKs130_provenance.
• NP145112.RAr9gx9Dp1yHRaKFRYLsEc72MxOCnY-xBZmKNBQEOn93w130_assertion description "[Our study shows that AQP4 downregulation can occur in muscular dystrophies with either normal or disrupted expression of dystrophin-associated proteins, and that this might be associated with upregulation of AQP1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145112.RAr9gx9Dp1yHRaKFRYLsEc72MxOCnY-xBZmKNBQEOn93w130_provenance.
• NP145113.RAgdN3Z5hCFK5W0-rtcGMc5FvWuhI-rJCLDwZYdZdzDfg130_assertion description "[Screening for DNA variations in the genes encoding nesprin-1 (SYNE1) and nesprin-2 (SYNE2) in 190 probands with Emery Dreifuss muscular dystrophy identified four heterozygous missense mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145113.RAgdN3Z5hCFK5W0-rtcGMc5FvWuhI-rJCLDwZYdZdzDfg130_provenance.
• NP145114.RAryffOU38yg_OuIoh7Exy5S_qKBo7Ew-Cbv24YDyROEU130_assertion description "[Our study shows that AQP4 downregulation can occur in muscular dystrophies with either normal or disrupted expression of dystrophin-associated proteins, and that this might be associated with upregulation of AQP1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145114.RAryffOU38yg_OuIoh7Exy5S_qKBo7Ew-Cbv24YDyROEU130_provenance.
• NP145117.RAsI4weF_ZPBuf-zHQ7kFbeiv3FKEruEA_3Rm6tESeKCs130_assertion description "[intron mutation is responsible for complete exon 17 skipping in severe congenital muscular dystrophy ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145117.RAsI4weF_ZPBuf-zHQ7kFbeiv3FKEruEA_3Rm6tESeKCs130_provenance.
• NP145121.RAvCPOdP_WfyMBJzY5J9Y1dAIjDm6xAVMlYEMCGL4ZoWM130_assertion description "[A number of mutations are identified in association with congenital muscular dystrophies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145121.RAvCPOdP_WfyMBJzY5J9Y1dAIjDm6xAVMlYEMCGL4ZoWM130_provenance.
• NP145125.RAi-HIv7yjdv4x-R56euFT5e3vtui054-zonXUPL3jBMU130_assertion description "[Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145125.RAi-HIv7yjdv4x-R56euFT5e3vtui054-zonXUPL3jBMU130_provenance.
• NP145126.RAgf0l0U3D5kpUc_95rBinAqPhEwiu4DX5OmA48q4xqu8130_assertion description "[Study reports 10 unrelated patients with a Ullrich congenital muscular dystrophy clinical phenotype and de novo dominant negative heterozygous splice mutations in COL6A1, COL6A2 and COL6A3.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145126.RAgf0l0U3D5kpUc_95rBinAqPhEwiu4DX5OmA48q4xqu8130_provenance.
• NP145128.RArFZW_3kTM3coqCO38D-bQWM3i95zLvpaSQZabX--B54130_assertion description "[Haplotype analysis clearly suggested linkage of Ullrich muscular dystrophy to the COL6A1/2 locus in two cases and to the COL6A3 loci in the third case/the remaining nine patients, primary collagen VI involvement was excluded ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145128.RArFZW_3kTM3coqCO38D-bQWM3i95zLvpaSQZabX--B54130_provenance.
• NP145135.RAhk_C93AphTCgYh4IuiTs9aAaUOpguQHpKWOlZOklD1Q130_assertion description "[Height is reduced in Turner syndrome due to haploinsufficiency of SHOX gene, an Xp chromosome gene that escapes inactivation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145135.RAhk_C93AphTCgYh4IuiTs9aAaUOpguQHpKWOlZOklD1Q130_provenance.
• NP145136.RAqglH9mDyqSWi7CsojB71WIDwGbki4a4AJo3cMma8Uwk130_assertion description "[SHOX intragenic microsatellite might be a useful molecular marker to detect Turner syndrome and when skeletal disproportion is associated with short stature a significant proportion of patients is found to have a single SHOX allele ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145136.RAqglH9mDyqSWi7CsojB71WIDwGbki4a4AJo3cMma8Uwk130_provenance.
• NP145147.RAlKs5gy_j9pfBwNhMRmD_v06TQ9YxpxTvwv5GDwzJvSE130_assertion description "[tribbles homolog 2-Mcl-1 axis plays an important role in survival factor withdrawal-induced apoptosis of TF-1 erythroleukemia cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145147.RAlKs5gy_j9pfBwNhMRmD_v06TQ9YxpxTvwv5GDwzJvSE130_provenance.
• NP145148.RAhSxQ1wohuwAXNiNTK9L6heGukxewQzoxRYhVLj7dtAo130_assertion description "[Both HSF1 and HSF2 were able to bind the hsp70 promoter not only in response to heat shock but also during hemin-induced differentiation of K562 erythroleukemia cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145148.RAhSxQ1wohuwAXNiNTK9L6heGukxewQzoxRYhVLj7dtAo130_provenance.
• NP145149.RAvHt3Z38krWgJ8DdsK5xr4S6SquFxqa_gYReHjL3ojqc130_assertion description "[Stat1 and Stat3 may support cell growth in part via c-myc gene activation in primary erythroleukemia cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145149.RAvHt3Z38krWgJ8DdsK5xr4S6SquFxqa_gYReHjL3ojqc130_provenance.
• NP145151.RApO-PVBy_eiUuNH8R24w0BcQCvTtGCc0iDxb_oyug6yU130_assertion description "[The stable transfected cells were identified with RT-PCR and the effect of EDAG/siRNA on the growth of the human erythroleukemia cell line HEL was analyzed.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145151.RApO-PVBy_eiUuNH8R24w0BcQCvTtGCc0iDxb_oyug6yU130_provenance.
• NP145158.RAhA-DUf8EXkpjDY8BmK5HEtCQUj8VgMgH5lptNl4jHGQ130_assertion description "[Founder mutation in Ashkenazi Jewish population that causes maple syrup urine disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145158.RAhA-DUf8EXkpjDY8BmK5HEtCQUj8VgMgH5lptNl4jHGQ130_provenance.
• NP145160.RArPI2RVU4PxDVOXtKIn5AA4DInHLE3pQGWRtGn7x11yo130_assertion description "[in our cohort more severe enzyme & clinical phenotypes of variant maple syrup urine disease were mainly associated with specific genotypes in BCKDHA gene; milder enzyme & clinical phenotypes were associated with specific genotypes in BCKDHB & DBT genes ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145160.RArPI2RVU4PxDVOXtKIn5AA4DInHLE3pQGWRtGn7x11yo130_provenance.
• NP145162.RAmTgBXsAABUCi-nP4jvYa6LrKVcsHEv2nnHvwRG8hNhM130_assertion description "[in our cohort more severe enzyme & clinical phenotypes of variant maple syrup urine disease were mainly associated with specific genotypes in BCKDHA gene; milder enzyme & clinical phenotypes were associated with specific genotypes in BCKDHB & DBT genes ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145162.RAmTgBXsAABUCi-nP4jvYa6LrKVcsHEv2nnHvwRG8hNhM130_provenance.
• NP145165.RAlhq04USq-wYYgy5EmJ_zIToDbcR2Ofwj4JrvnPVccjI130_assertion description "[Although rare severe speech disorders may result from mutation in a single gene, common disorders are more likely to result from multiple genetic factors.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145165.RAlhq04USq-wYYgy5EmJ_zIToDbcR2Ofwj4JrvnPVccjI130_provenance.
• NP145168.RAqBXcD3N6quddDarxjy02DmEwsTzydcDsLvhIm-R2yZg130_assertion description "[FOXP2 has funcionality in modulating synaptic plasticity, neurodevelopment, neurotransmission, and axon guidance in the brain and is mutated in speech and language disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145168.RAqBXcD3N6quddDarxjy02DmEwsTzydcDsLvhIm-R2yZg130_provenance.
• NP145173.RAit8cDviFWvcWpYfwc69YtSDZ9yi1WGyN9P59JTBbGzw130_assertion description "[In clinically suspected X-linked congenital retinoschisis (RS), a combination of ERG, FAF, OCT, and molecular-genetic testing is advised to verify the diagnosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145173.RAit8cDviFWvcWpYfwc69YtSDZ9yi1WGyN9P59JTBbGzw130_provenance.
• NP145176.RAtgjBTbAf0DTr7brOjeDRS9fDX-4cWL4Tu1j_0J1xYnM130_assertion description "[RS1 gene mutations caused X-linked juvenile retinoschisis in these Chinese families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145176.RAtgjBTbAf0DTr7brOjeDRS9fDX-4cWL4Tu1j_0J1xYnM130_provenance.
• NP145177.RAjx-9scCIBIsyTMsriM-9J5DamYKifVZbx2yh9dvBJdc130_assertion description "[Two novel point mutations of the XLRS1 gene in two Japanese patients with X-linked juvenile retinoschisis/novel splice donor site mutation (IVS2 + 1g to a) and one missense mutation of exon 6 (Ala211Thr) were found.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145177.RAjx-9scCIBIsyTMsriM-9J5DamYKifVZbx2yh9dvBJdc130_provenance.
• NP145187.RAnBDVimtRaBTAYCGrfDtmUpgn_guSkEPXqtWihjCuVTo130_assertion description "[Country of recruitment, rather than MEFV genotype, is the key risk factor for renal amyloidosis in familial Mediterranean fever.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145187.RAnBDVimtRaBTAYCGrfDtmUpgn_guSkEPXqtWihjCuVTo130_provenance.
• NP145188.RAn7eNz4Jcy7rMmLP9jdD_ug1fkJx_ByZ3eZzaSIv4_ws130_assertion description "[Analysis of familial Mediterranean fever gene mutations in 202 patients with familial Mediterranean fever is reported.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145188.RAn7eNz4Jcy7rMmLP9jdD_ug1fkJx_ByZ3eZzaSIv4_ws130_provenance.
• NP145191.RAqnfSpCZTS7Pq5GFJf0pgN3L5uRTekm_s_Rg9gQ64Ai4130_assertion description "[familial Mediterranean fever (FMF) heterozygote mutation and nail-patella syndrome (NPS) in 3 members of a family with no pathologic mutation in the LMX1B gene ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145191.RAqnfSpCZTS7Pq5GFJf0pgN3L5uRTekm_s_Rg9gQ64Ai4130_provenance.
• NP145192.RAqEjeqyLi5iJHqNJyDrs1xFOQAwpEaKXuwpUyATOGv3A130_assertion description "[spectrum of MEFV alterations in familial Mediterranean fever patients and healthy individuals in Greece ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145192.RAqEjeqyLi5iJHqNJyDrs1xFOQAwpEaKXuwpUyATOGv3A130_provenance.
• NP145203.RAtuyjCKEu9jqRaZRjAwrA9TGTz59aUelNRPpL1qIP1po130_assertion description "[Increased amyloid AA is associated with amyloidosis and familial Mediterranean fever ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145203.RAtuyjCKEu9jqRaZRjAwrA9TGTz59aUelNRPpL1qIP1po130_provenance.
• NP145205.RAi0XdW84fw1ZksDhvgrAFcH9klgGygf_00yX5uy6aRPo130_assertion description "[Data suggest that the frequency of the -13T serum amyloid A1 (SAA1) allele may explain the difference in prevalence of AA amyloidosis in Japanese and Caucasians.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145205.RAi0XdW84fw1ZksDhvgrAFcH9klgGygf_00yX5uy6aRPo130_provenance.
• NP145219.RAuMgKM3MzmoWuWO4ht1tSQXLIGq9K14DxELYCSvl9o_g130_assertion description "[MMP-3 activity increases in hemodialysis patients with dialysis-related amyloidosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145219.RAuMgKM3MzmoWuWO4ht1tSQXLIGq9K14DxELYCSvl9o_g130_provenance.
• NP145220.RAvAR4IiEjMkDx5H9EDmZxeZUUKuvP2pE4JR1VonPVjJk130_assertion description "[In transgenic mouse models of amyloidosis, unilateral intracerebral injection of Lenti-Nep reduced amyloid-beta deposits and ameliorated neurodegenerative alterations in the frontal cortex and hippocampus ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145220.RAvAR4IiEjMkDx5H9EDmZxeZUUKuvP2pE4JR1VonPVjJk130_provenance.
• NP145223.RAuKBG_OxdxcrguoDDXmC3xTyvtrZ5A3StkkhWc2u9FYs130_assertion description "[In phenotype II amyloidosis patients, the distribution of the four common MEFV mutations was not significantly different from that found in all FMF patients with typical symptoms who do or do not develop amyloidosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145223.RAuKBG_OxdxcrguoDDXmC3xTyvtrZ5A3StkkhWc2u9FYs130_provenance.
• NP145225.RAoFDPpKt_x656T1Ksq4g51tkp4kx3b2e1KKxgZyBe0CY130_assertion description "[we found a higher disease severity score and higher prevalence of amyloidosis in FMF patients who were M694V mutation carriers.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145225.RAoFDPpKt_x656T1Ksq4g51tkp4kx3b2e1KKxgZyBe0CY130_provenance.
• NP145228.RAkuisfj_jY8e6Wb4RYGtzdgLp_VbpSUEC77GydKMQjGE130_assertion description "[examined the unfolding processes of B2M and two related variants, a DeltaN6 and a Lys57-Asp58 cleavage, by high-temperature molecular dynamics simulations/changes of variants may relate to polymerization tendencies related to amyloidosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145228.RAkuisfj_jY8e6Wb4RYGtzdgLp_VbpSUEC77GydKMQjGE130_provenance.
• NP145232.RAkJRsox20XvqA8DdsETLXTgstuek5QOXblWkMeaOZXQE130_assertion description "[A novel form of systemic ALys amyloidosis, caused by compound heterozygosity in exon 2 (p.T70N) and exon 4 (p.W112R) of the lysozyme gene (LYZ), with both mutations being present on the same allele.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145232.RAkJRsox20XvqA8DdsETLXTgstuek5QOXblWkMeaOZXQE130_provenance.
• NP145235.RAk9NI0bOZeL8YmFXEtioXU6piHczxgHT4HPv2ebamZtI130_assertion description "[Twenty of 46 patients with IgM amyloidosis (7 with and 13 without polyneuropathy) had elevation of anti-MAG or SGPG by enzyme-linked immunosorbent assay ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145235.RAk9NI0bOZeL8YmFXEtioXU6piHczxgHT4HPv2ebamZtI130_provenance.
• NP145237.RAk93_kYrpH4D2PnZDWptEP86kHZFzrPYYVKnatYik3jA130_assertion description "[APPPS1 mice are well suited for studying therapeutic strategies and the pathomechanism of amyloidosis by cross-breeding to other genetically engineered mouse models.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145237.RAk93_kYrpH4D2PnZDWptEP86kHZFzrPYYVKnatYik3jA130_provenance.
• NP145238.RAuw1hLErBqX7UDsuGyrZKnV64kyx2bBethKoP7s5xRBk130_assertion description "[Amino acid substitution in ABPP inhibits parenchymal amyloidosis but exacerbates vascular amyloid, explaining the destribution of amyloid in amyloidosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145238.RAuw1hLErBqX7UDsuGyrZKnV64kyx2bBethKoP7s5xRBk130_provenance.
• NP145239.RArQpQv8H6qmhHbTduma1A3XbT-MxTHIHDGNpeoUQTpNE130_assertion description "[HspB8 might play important role in regulating Abeta aggregation and, therefore, development of classic senile plaques in Alzheimer's disease and cerebral amyloid angiopathy in hereditary cerebral hemorrhage with amyloidosis of Dutch type.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145239.RArQpQv8H6qmhHbTduma1A3XbT-MxTHIHDGNpeoUQTpNE130_provenance.
• NP145240.RApSsn1nT2XwmgFlJuaYUuGdtu4cup6MYnVGcB9_w_DIM130_assertion description "[Liver transplantation in a patient with hereditary variant apolipoprotein AI (apoAI) amyloidosis associated with a 50% decrease in production of variant apoAI.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145240.RApSsn1nT2XwmgFlJuaYUuGdtu4cup6MYnVGcB9_w_DIM130_provenance.
• NP145241.RAonCIQs4KnPTwwNGysrDqM1YmPRaIbMFcx7C6_vOrZCg130_assertion description "[Ardalan-Shoja-Kiuru syndrome, a hereditary gelsolin amyloidosis plus retinitis pigmentosa, is due to a G654A gelsolin mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145241.RAonCIQs4KnPTwwNGysrDqM1YmPRaIbMFcx7C6_vOrZCg130_provenance.
• NP145243.RAg5wOYMUyONqR9tiYznEz64-jjLqw73Lbyi6ZkUK9ksc130_assertion description "[HspB8 might play important role in regulating Abeta aggregation and, therefore, development of classic senile plaques in Alzheimer's disease and cerebral amyloid angiopathy in hereditary cerebral hemorrhage with amyloidosis of Dutch type.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145243.RAg5wOYMUyONqR9tiYznEz64-jjLqw73Lbyi6ZkUK9ksc130_provenance.
• NP145246.RAjUzcrSNm_j_TRHDF6bf9_Vlf-kxjNkH4e3e3IHWvpco130_assertion description "[Through adenoviral gene transfer technology, we describe a novel mouse model of colitis and implicate TGF-beta1 in the pathogenesis of obstructive intestinal fibrosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145246.RAjUzcrSNm_j_TRHDF6bf9_Vlf-kxjNkH4e3e3IHWvpco130_provenance.
• NP145247.RApolg6wBDbeRBKVCNchXzInYpvfOJ7XLc41H4nRxue3o130_assertion description "[Increased mucosal tumor necrosis factor-alpha is associated with segmental colitis associated with diverticula.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145247.RApolg6wBDbeRBKVCNchXzInYpvfOJ7XLc41H4nRxue3o130_provenance.
• NP145253.RAh_5qc8x6_RnnWJCWvyA-81MiceBLv16OobzT5GL1Oz8130_assertion description "[SP mediates angiogenesis via CCN1 during colitis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145253.RAh_5qc8x6_RnnWJCWvyA-81MiceBLv16OobzT5GL1Oz8130_provenance.
• NP145259.RAlA-WHOzhWszSMGbZ0knAbZEkz2lOXjGMXaIsqmkO8qY130_assertion description "[PSGL-1 and VLA-4 play an important role for leukocyte recruitment during intestinal inflammation/strategies designed to disrupt interactions mediated by PSGL-1 and/or VLA-4 may prove beneficial in treatment of chronic colitis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145259.RAlA-WHOzhWszSMGbZ0knAbZEkz2lOXjGMXaIsqmkO8qY130_provenance.
• NP145264.RAudYd6WyNb7ciICsfKzf-whLofw54sfndB0MVyefkMXE130_assertion description "[The result did not support the possible role of the NPHS2 gene in susceptibility to Henoch-Schonlein purpura nephritis in the population studied.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145264.RAudYd6WyNb7ciICsfKzf-whLofw54sfndB0MVyefkMXE130_provenance.
• NP145267.RAiW_iPdMC0lA8v3_CB_s4LZAnF_0gr59aZ4a2b75iuzU130_assertion description "[MMP-9 plays an important role in the vascular destruction of Henoch-Schonlein purpura, and circulating white blood cells may be a source of the MMP-9 secreted into the circulation.may be a source of the MMP-9 secreted into the circulation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145267.RAiW_iPdMC0lA8v3_CB_s4LZAnF_0gr59aZ4a2b75iuzU130_provenance.
• NP145271.RAibvBi5QmNq7TAcVBiTnclaFzOpvd0EHgGNbNkokHYWI130_assertion description "[C4 null alleles were significantly more common in Henoch-Schonlein purpura patients than in controls ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145271.RAibvBi5QmNq7TAcVBiTnclaFzOpvd0EHgGNbNkokHYWI130_provenance.
• NP145278.RAua5WLLtbF6zLdGjeUjknt8IkX_SPqoqHoPNMxoGWdvk130_assertion description "[CP levels wefre determined in children with Henoch-Schonlein purpura.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145278.RAua5WLLtbF6zLdGjeUjknt8IkX_SPqoqHoPNMxoGWdvk130_provenance.
• NP145279.RAsB3x8XHQQPDQ5Qb7wljQCoVgF3vKuWp1IHQEKmqlQ28130_assertion description "[findings show increased permeability & disrupted tight junctions of vascular endothelium cells in dengue haemorrhagic fever/dengue shock syndrome were effected by a mechanism partially dependent on MCP-1 secreted by DV2-infected monocytes & lymphocytes ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145279.RAsB3x8XHQQPDQ5Qb7wljQCoVgF3vKuWp1IHQEKmqlQ28130_provenance.
• NP145280.RAgbmNFg6SOhL5ThHlhyycPjBoDkgu1Gedx8R5j4tvRHo130_assertion description "[Periodic fever syndrome is associated with Tumor necrosis factor receptor-1A mutation C30R (cysteine to arginine) in a Japanese family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145280.RAgbmNFg6SOhL5ThHlhyycPjBoDkgu1Gedx8R5j4tvRHo130_provenance.
• NP145281.RAisuxKhOUj_e8tCmo_mb2-0oa7YVdqRfUBUxPpF7w-ME130_assertion description "[Mevalonic aciduria, with psychomotor retardation, cerebellar ataxia, recurrent fever, and death in early childhood, and hyper-immunoglobulin D syndrome, with recurrent fever attacks without neurologic symptoms, are caused by mevalonate kinase deficiency ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145281.RAisuxKhOUj_e8tCmo_mb2-0oa7YVdqRfUBUxPpF7w-ME130_provenance.
• NP145282.RAhByGgfxJkOMeYPp-q7lMEbj9ZybcFYyLJww0HaagEP4130_assertion description "[The results suggest that the intensity levels of platelet CD61 were elevated and associated with clinical phases and disease severity in patients with hemorrhagic fever with renal syndrome ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145282.RAhByGgfxJkOMeYPp-q7lMEbj9ZybcFYyLJww0HaagEP4130_provenance.
• NP145283.RAnanRD80o93lOkvMYQHKaxSJairVnKRO7bBwxiTCzyS0130_assertion description "[Retrovirus-mediated transfer of dominant-negative mutant HSF1 leads to massive cell death of breast cancer cells after hyperthermia treatment.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145283.RAnanRD80o93lOkvMYQHKaxSJairVnKRO7bBwxiTCzyS0130_provenance.
• NP145290.RAgyP3knpWZshCmGWamuaKoIIxnI70sY-ZMpihlSJioAQ130_assertion description "[This observation highlights the role of TSP-1 in hemorrhagic fever with renal syndrome which might have further prognostic and therapeutic implications.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145290.RAgyP3knpWZshCmGWamuaKoIIxnI70sY-ZMpihlSJioAQ130_provenance.
• NP145291.RAjWDco_9lUXFXTDmkUn7zcYIGGfn_Xg1eCE3CzGl6_2s130_assertion description "[novel mutations in patients with nail patella syndrome ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145291.RAjWDco_9lUXFXTDmkUn7zcYIGGfn_Xg1eCE3CzGl6_2s130_provenance.
• NP145293.RAs4xOg8tZR6nvxxs8gmNiRtcS5JiK2lXznRW5l526Gvo130_assertion description "[a mutation in the LMX1B gene causes nail-patella syndrome in a Chinese population ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145293.RAs4xOg8tZR6nvxxs8gmNiRtcS5JiK2lXznRW5l526Gvo130_provenance.
• NP145295.RAgqeRwudpfELT-VPCt0w6Q8BSYknk7OWIo8zUPWkZflY130_assertion description "[Familial, genetic proved (( missense mutation -G599A (R200Q) of LMX1B gene)) of nail patella syndrome in a mother and her son ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145295.RAgqeRwudpfELT-VPCt0w6Q8BSYknk7OWIo8zUPWkZflY130_provenance.
• NP145299.RAglhkIWbvM0X94UFambo1VgfNtSpRgy9ROVhmmC5mOvs130_assertion description "[Review/is a homeodomain transcription factor required for glomerular basement membrane collagen expression by podocytes/absence in nail-patella syndrome causes abnormalities in many organ systems.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145299.RAglhkIWbvM0X94UFambo1VgfNtSpRgy9ROVhmmC5mOvs130_provenance.
• NP145300.RAhNWGLofy_-o_2wM7Wfxu01oB0PER8jxvz3_Xz04kWHY130_assertion description "[In liver cirrhosis, the effects of leptin on energy intake and expenditure seem to be altered insulin resistance.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145300.RAhNWGLofy_-o_2wM7Wfxu01oB0PER8jxvz3_Xz04kWHY130_provenance.
• NP145303.RAmLyMBPO4k4t-dsylEGqt7iDhiq-9j1o6XXScEhGjB5Q130_assertion description "[Results imply that MMP-7 is a major MMP associated with the tissue remodeling during the progression of liver fibrosis in biliary atresia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145303.RAmLyMBPO4k4t-dsylEGqt7iDhiq-9j1o6XXScEhGjB5Q130_provenance.
• NP145306.RAoiO0NJ2gDVHjg_ms0RlxbeLCMs_no6ye_2syBY7HvXQ130_assertion description "[Data suggest that TGF-beta1 single nucleotide polymorphisms probably facilitate the development of liver cirrhosis, while they seem to have a limited role in predicting the occurrence of hepatocellular carcinoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145306.RAoiO0NJ2gDVHjg_ms0RlxbeLCMs_no6ye_2syBY7HvXQ130_provenance.
• NP145308.RAt9d48NW9rc8fhKT1Vx7DD6CefAtGXqm41umUUxwk8K0130_assertion description "[a genetic background such as the MTHFR C677T polymorphism responsible for hyperhomocysteinemia plays a role in the development of higher degree of steatosis, which in turn accelerates the progression of liver fibrosis in chronic hepatitis C ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145308.RAt9d48NW9rc8fhKT1Vx7DD6CefAtGXqm41umUUxwk8K0130_provenance.
• NP145311.RAv9j81w3EDdxHUJQi9E_q_wXkp7s0a9Vm8EJX0fE4fXI130_assertion description "[The polymorphism of TGF beta1 gene is associated with hereditary susceptibility to liver cirrhosis and severity of HBV-induced liver cirrhosis; the polymorphism of AT1R gene is not associated with hereditary susceptibility to HBV-induced liver cirrhosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145311.RAv9j81w3EDdxHUJQi9E_q_wXkp7s0a9Vm8EJX0fE4fXI130_provenance.
• NP145313.RAi_jrKmWu0gu-0HQN-gidWhpSdbtX3FfoA1pdW0P_-OE130_assertion description "[Chronic inflammation associated with hepatitis C virus infection shifts hepatocytic TGF-beta signaling from tumor-suppression to fibrogenesis, accelerating liver fibrosis and increasing risk for hepatocarcinoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145313.RAi_jrKmWu0gu-0HQN-gidWhpSdbtX3FfoA1pdW0P_-OE130_provenance.
• NP145320.RApVAG0msqW1l-P8_WeTPVB3scl68oV0vNbfp0sq1f6W4130_assertion description "[Transplantation of basic fibroblast growth factor-pretreated adipose tissue-derived stromal cells enhances regression of liver fibrosis in mice.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145320.RApVAG0msqW1l-P8_WeTPVB3scl68oV0vNbfp0sq1f6W4130_provenance.
• NP145328.RAitVmI2W07NY71Y2SP35SYDT2imqPnHZUxWoh3ZeYmuQ130_assertion description "[expression of the keratinocyte growth factor receptor was up-regulated in early stages of liver fibrosis and down-regulated in cirrhotic organs ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145328.RAitVmI2W07NY71Y2SP35SYDT2imqPnHZUxWoh3ZeYmuQ130_provenance.
• NP145332.RAgGmIUwU3734498HSOaY52lJmvWwYLkjjYGTlzflsrRI130_assertion description "[PDGF-BB may play some role in the development and progression of liver fibrosis ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145332.RAgGmIUwU3734498HSOaY52lJmvWwYLkjjYGTlzflsrRI130_provenance.
• NP145334.RApUzhY8d5CSPm9jcFN-QdGCjXXNnU_aCM4APkCg7JVd8130_assertion description "[Imbalance of IGF-1 and IGFBP-3 may play a role in hepatocarcinogenesis and tumor development of liver cirrhosis patients ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145334.RApUzhY8d5CSPm9jcFN-QdGCjXXNnU_aCM4APkCg7JVd8130_provenance.
• NP145339.RAibyj753g0wlPwfWp_nWS4vT7JH-vnYeZVUjhAgN4AUQ130_assertion description "[IFN-gamma is associated with protection against peripheral liver fibrosis in Schistosomiasis japonica, which depends more on egg load and egg-associated toxicity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145339.RAibyj753g0wlPwfWp_nWS4vT7JH-vnYeZVUjhAgN4AUQ130_provenance.
• NP145341.RAo4NTS7LASTmasEwtkaM2AtDg5rJsjN6juzQAZdkZb2I130_assertion description "[Patient with chronic hepatitis C carrying DDX5 haplotypes are at an increased risk of developing advanced liver fibrosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145341.RAo4NTS7LASTmasEwtkaM2AtDg5rJsjN6juzQAZdkZb2I130_provenance.
• NP145346.RAubiaj8R6tOaSk36v0pNrq8xLI5PV0TvbmT0LFlLSWLQ130_assertion description "[Plasma levels of PBEF/Nampt/visfatin are decreased in patients with liver cirrhosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145346.RAubiaj8R6tOaSk36v0pNrq8xLI5PV0TvbmT0LFlLSWLQ130_provenance.
• NP145359.RArtu4iwc1Y2DSrcwZXL0cV6g6jnaFzL8c2o0ZPjhYt_s130_assertion description "[RBP4 is not a relevant systemic factor in the pathogenesis of insulin resistance in liver cirrhosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145359.RArtu4iwc1Y2DSrcwZXL0cV6g6jnaFzL8c2o0ZPjhYt_s130_provenance.
• NP145360.RArmvqruZJW9hg-aUm5cby9C9_Gx59LYJSMJnau5kBB7w130_assertion description "[Different alterations of cytochrome P450 3A4 isoform and its gene expression in livers of patients with chronic liver diseases/isoenzyme and its activity declined among patients with hepatic cirrhosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145360.RArmvqruZJW9hg-aUm5cby9C9_Gx59LYJSMJnau5kBB7w130_provenance.
• NP145374.RAgCnQUFpqHTnXo_FoZvDDqkWMws0p6wMYMjqi4ugs5Lc130_assertion description "[We found a higher protein expression of TGF-alpha in human hepatic cirrhosis (HC) tissues, suggesting that there was autocrine circulation of TFG-alpha in HC tissues.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145374.RAgCnQUFpqHTnXo_FoZvDDqkWMws0p6wMYMjqi4ugs5Lc130_provenance.
• NP145382.RAvRWb6Stfq-cPCaxvrp2SYUvVc3dmfxWcSosIhYIE1h4130_assertion description "[P-selectin elevation in chronic liver disease may suggest a possible pathogenetic role in the course of liver cirrhosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145382.RAvRWb6Stfq-cPCaxvrp2SYUvVc3dmfxWcSosIhYIE1h4130_provenance.
• NP145384.RAmCwduyklaBWL1sUUZfarsN8Wgkhu2GtJbw8WqYgGUsE130_assertion description "[Data Show bFGF was expressed in regenerative hepatocytes, but not in fibroblasts, suggesting its role in promoting oxidative stress produced by hepatocytes may contribute to the development of fibrous bands in hepatic cirrhosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145384.RAmCwduyklaBWL1sUUZfarsN8Wgkhu2GtJbw8WqYgGUsE130_provenance.
• NP145387.RAoVYuhcH3CvW5ZeHEQJNWV1R44sGPL_YirtDL1To-9q0130_assertion description "[the activation of monocytes and blood platelets is accompanied by the elevation of monocytic Tissue Factor expression in advanced liver cirrhosis ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145387.RAoVYuhcH3CvW5ZeHEQJNWV1R44sGPL_YirtDL1To-9q0130_provenance.
• NP145389.RAhEnFhCyzwXBh2X79TfdztBXH4-JRM99045qGpeDhF_s130_assertion description "[Description of mutations in HPS genes that cause Hermansky-Pudlak syndrome (review) ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145389.RAhEnFhCyzwXBh2X79TfdztBXH4-JRM99045qGpeDhF_s130_provenance.
• NP145390.RAtaae_d-oC-NA2VrBUnWmLxkmSG7-CS3_ezyc2xn-Kp8130_assertion description "[A novel homozygous mutation in AP3B1 was detected in a 2-year-old patient with oculocutaneous albinism and immunodeficiency with Hermansky-Pudlak syndrome type II and eventual acute fatal hemophagocytic lymphohistiocytosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145390.RAtaae_d-oC-NA2VrBUnWmLxkmSG7-CS3_ezyc2xn-Kp8130_provenance.
• NP145395.RAvMyoTdOWDSWIE3xhqQnaSCsI5Xe_-505aBzapyi1cIg130_assertion description "[Description of mutations in HPS genes that cause Hermansky-Pudlak syndrome (review) ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145395.RAvMyoTdOWDSWIE3xhqQnaSCsI5Xe_-505aBzapyi1cIg130_provenance.
• NP145396.RApv-qcIGq7BkxyxK05Bp9NC2vCrjOvRkXDa9WNLQuwnM130_assertion description "[Hermansky-Pudlak syndrome type 4 (HPS-4) patients exhibited iris transillumination, variable hair and skin pigmentation, absent platelet dense bodies, and occasional pulmonary fibrosis and granulomatous colitis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145396.RApv-qcIGq7BkxyxK05Bp9NC2vCrjOvRkXDa9WNLQuwnM130_provenance.
• NP145399.RAr-ci792HXg5MrpaWP5kkojgkpeJ8-6aCXX9YCA9rUDQ130_assertion description "[observations demonstrate that the Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of a cytosolic complex that is involved in the biogenesis of lysosomal-related organelles ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP145399.RAr-ci792HXg5MrpaWP5kkojgkpeJ8-6aCXX9YCA9rUDQ130_provenance.

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