Nanopublications LDF server

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

• NP6914.RAzn3lNWIfu7340vCFRn7M6x_swVk3ROKxOa2XEHDZOjA130_assertion description "[Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6914.RAzn3lNWIfu7340vCFRn7M6x_swVk3ROKxOa2XEHDZOjA130_provenance.
• NP6920.RA6JY_zyqxSg3V_eI_Y-ctFb7ApwkFUKWjRTohHygyCIM130_assertion description "[UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6920.RA6JY_zyqxSg3V_eI_Y-ctFb7ApwkFUKWjRTohHygyCIM130_provenance.
• NP6927.RAzpT4tzVeyIYsGoFy2jFMU8pPYU9GqZ3ZBzHmMo2UJW4130_assertion description "[De novo UPIIIA mutations recently were identified in 4 of 17 patients with severe bilateral renal adysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6927.RAzpT4tzVeyIYsGoFy2jFMU8pPYU9GqZ3ZBzHmMo2UJW4130_provenance.
• NP6928.RA6RkJvnI79D7cPeKZiIz74KjxG2KrqhDWbbjf4W02ebo130_assertion description "[De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6928.RA6RkJvnI79D7cPeKZiIz74KjxG2KrqhDWbbjf4W02ebo130_provenance.
• NP6942.RAzwg0PTxmne3eE448I401bET2EX4njT-U5pTuqtFtry8130_assertion description "[Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6942.RAzwg0PTxmne3eE448I401bET2EX4njT-U5pTuqtFtry8130_provenance.
• NP6946.RA_NjFUXMfyNBsBmgup5cd_uCqkkCz9Kiwmo7Co6hFaHk130_assertion description "[Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6946.RA_NjFUXMfyNBsBmgup5cd_uCqkkCz9Kiwmo7Co6hFaHk130_provenance.
• NP6950.RA5sv94WrYegO2sDVrux0X-QJzh2BljXDyYa-jqb6KB54130_assertion description "[Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6950.RA5sv94WrYegO2sDVrux0X-QJzh2BljXDyYa-jqb6KB54130_provenance.
• NP6951.RA4GgNjtfKi94lPaTPwAomeiL_s48Kc4Zarr0zQG5gJWo130_assertion description "[A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6951.RA4GgNjtfKi94lPaTPwAomeiL_s48Kc4Zarr0zQG5gJWo130_provenance.
• NP6953.RA0Y9FVDn7J66E1rvvw1DgJxWRlirx6OD6EeaWWZIBZnw130_assertion description "[Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6953.RA0Y9FVDn7J66E1rvvw1DgJxWRlirx6OD6EeaWWZIBZnw130_provenance.
• NP6966.RA1iUX5FrxSNUiRcI779fVYTHwCWOQhUfAzabI9fLcUZs130_assertion description "[Mutations in VANGL1 associated with neural-tube defects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6966.RA1iUX5FrxSNUiRcI779fVYTHwCWOQhUfAzabI9fLcUZs130_provenance.
• NP6973.RA3lWyMLTD9p9qG2L-mkwk_FUXpW_TMTYWiDxtMYrraAw130_assertion description "[A missense mutation in a ubiquitously expressed protein, vinculin, confers susceptibility to hypertrophic cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6973.RA3lWyMLTD9p9qG2L-mkwk_FUXpW_TMTYWiDxtMYrraAw130_provenance.
• NP6977.RA7rImwBGfPL5Zmz_Xi9aakCRc-1w8SaN3IjF_Pk6-syg130_assertion description "[Exome sequencing reveals VCP mutations as a cause of familial ALS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6977.RA7rImwBGfPL5Zmz_Xi9aakCRc-1w8SaN3IjF_Pk6-syg130_provenance.
• NP6978.RAy8MZB5dtIzU7H3X76ITpywjoURsN2FCjkVW8uP0D0IA130_assertion description "[Identification of VCP as causing IBMPFD has important implications for other inclusion-body diseases, including myopathies, dementias and Paget disease of bone (PDB), as it may define a new common pathological ubiquitin-based pathway.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6978.RAy8MZB5dtIzU7H3X76ITpywjoURsN2FCjkVW8uP0D0IA130_provenance.
• NP6994.RA3x1CR6UHnjwAE3E9I3idOWdCOFbJXOKbBnPC2zItTj4130_assertion description "[VHL syndrome is an autosomal dominant disorder predisposing to the development of tumors, due to inherited mutations in the VHL gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6994.RA3x1CR6UHnjwAE3E9I3idOWdCOFbJXOKbBnPC2zItTj4130_provenance.
• NP6995.RAyzITcHsWROdvg9tqn4sOjQD_FurvPyBJmaIbnbjiGCI130_assertion description "[The group of susceptibility genes for pheochromocytoma that included the proto-oncogene RET (associated with multiple endocrine neoplasia type 2 [MEN-2]) and the tumor-suppressor gene VHL (associated with von Hippel-Lindau disease) now also encompasses the newly identified genes for succinate dehydrogenase subunit D (SDHD) and succinate dehydrogenase subunit B (SDHB), which predispose carriers to pheochromocytomas and glomus tumors.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6995.RAyzITcHsWROdvg9tqn4sOjQD_FurvPyBJmaIbnbjiGCI130_provenance.
• NP6996.RA1J7st_GDtHaJ8xordTBK1aqwqngiV4yos1TsMuft-tc130_assertion description "[We have identified a family segregating von Hippel-Lindau (VHL) disease with a previously unreported T547A mutation in exon 1 of the VHL gene that causes a Tyr112 to Asn missense alteration in the protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6996.RA1J7st_GDtHaJ8xordTBK1aqwqngiV4yos1TsMuft-tc130_provenance.
• NP6997.RA8SOhy9i3xJntxgAZgxzWv5s9uGxgYbyYcPbrKULybUY130_assertion description "[Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6997.RA8SOhy9i3xJntxgAZgxzWv5s9uGxgYbyYcPbrKULybUY130_provenance.
• NP6998.RA0tM4qrtdcPD5jcACi0lymIahm2rp5_InWFnJ-OeTKWk130_assertion description "[Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6998.RA0tM4qrtdcPD5jcACi0lymIahm2rp5_InWFnJ-OeTKWk130_provenance.
• NP6999.RA6-CVWr-dx23Vw3uM2RMA_Lyr4S7IFduiHFZB6sjXj9w130_assertion description "[Three novel mutations in the Von Hippel-Lindau tumour suppressor gene in Italian patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6999.RA6-CVWr-dx23Vw3uM2RMA_Lyr4S7IFduiHFZB6sjXj9w130_provenance.
• NP7003.RA-199loW0wDzEhnurtSGF9ct8PhJYrxDh3J1oRMGXDPo130_assertion description "[Patterns of somatic mutation in human cancer genomes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7003.RA-199loW0wDzEhnurtSGF9ct8PhJYrxDh3J1oRMGXDPo130_provenance.
• NP7005.RA4eYSu0mXfipfyVIUIpfWE_2WICLmJ_CdSKDF-oOcAs8130_assertion description "[Mutations in the VHL gene in sporadic apparently congenital polycythemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7005.RA4eYSu0mXfipfyVIUIpfWE_2WICLmJ_CdSKDF-oOcAs8130_provenance.
• NP7008.RA3Jmle8l6E8Kfak7MMhHyb6_-jea48z1qdUOSAJYsWDA130_assertion description "[Thirteen novel VKORC1 mutations associated with oral anticoagulant resistance: insights into improved patient diagnosis and treatment.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7008.RA3Jmle8l6E8Kfak7MMhHyb6_-jea48z1qdUOSAJYsWDA130_provenance.
• NP7019.RA6l9-eC3FlzRKPeTm5AWHrTrFi7Xaf9_B_LBztQ7XSaQ130_assertion description "[Thus we show that all patients with a classical clinical course of ARC had decreased expression of VPS33B whereas normal VPS33B expression was associated with good prognosis despite initial diagnosis of ARC.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7019.RA6l9-eC3FlzRKPeTm5AWHrTrFi7Xaf9_B_LBztQ7XSaQ130_provenance.
• NP7020.RA3n672Dk26Yz2rfUqaCLVjoYqNcWPswqF2-afuMEF1MI130_assertion description "[Identification of VPS35 mutations replicated in French families with Parkinson disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7020.RA3n672Dk26Yz2rfUqaCLVjoYqNcWPswqF2-afuMEF1MI130_provenance.
• NP7021.RAywxMcZDlsB5jWpPJhltthDIaATUWGFI99VIiFYus4-s130_assertion description "[Mutations in the VSX1 (visual system homeobox 1) gene have been identified for two distinct, inherited corneal dystrophies: posterior polymorphous corneal dystrophy and keratoconus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7021.RAywxMcZDlsB5jWpPJhltthDIaATUWGFI99VIiFYus4-s130_provenance.
• NP7029.RA7TsumG5rc6W7kxW5bt4q8oTgYTmLzVvtpLA1A9w6O0A130_assertion description "[Genetic heterogeneity of severe von Willebrand disease type III in the German population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7029.RA7TsumG5rc6W7kxW5bt4q8oTgYTmLzVvtpLA1A9w6O0A130_provenance.
• NP7033.RA5_pLHPLRGA8bW8fdKurKX2AjyThIULrMXdcsPU4jzWM130_assertion description "[C1272F: a novel type 2A von Willebrand's disease mutation in A1 domain; its clinical significance.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7033.RA5_pLHPLRGA8bW8fdKurKX2AjyThIULrMXdcsPU4jzWM130_provenance.
• NP7037.RA7qCKrefrsE65aO6WuECCWwX1r33uZ0mdH1rRMcyqhIE130_assertion description "[Identification of a candidate missense mutation in a family with von Willebrand disease type IIC.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7037.RA7qCKrefrsE65aO6WuECCWwX1r33uZ0mdH1rRMcyqhIE130_provenance.
• NP7039.RAxftxzqtqhkCWQRxjtmj0vERuTjtMkRhZlLUTwt7uvSM130_assertion description "[Identification of two mutations (Arg611Cys and Arg611His) in the A1 loop of von Willebrand factor (vWF) responsible for type 2 von Willebrand disease with decreased platelet-dependent function of vWF.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7039.RAxftxzqtqhkCWQRxjtmj0vERuTjtMkRhZlLUTwt7uvSM130_provenance.
• NP7042.RA-Z3P8WMxHEfrqPfbAlPxejLrXvkirDOY2MVGH_KHAzA130_assertion description "[Investigation of type IIC von Willebrand disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7042.RA-Z3P8WMxHEfrqPfbAlPxejLrXvkirDOY2MVGH_KHAzA130_provenance.
• NP7048.RA9FQlfRjTN16opiZFtEYq7KBqOsHUBp17Z7UWxynu1eA130_assertion description "[X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7048.RA9FQlfRjTN16opiZFtEYq7KBqOsHUBp17Z7UWxynu1eA130_provenance.
• NP7051.RA0nnRjt-9tPdIZFT9SwMxy_OuK3A_2-3tdauvdx6Bfoc130_assertion description "[Mutation analysis of five Japanese families with Wiskott-Aldrich syndrome and determination of the family members' carrier status using three different methods.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7051.RA0nnRjt-9tPdIZFT9SwMxy_OuK3A_2-3tdauvdx6Bfoc130_provenance.
• NP7053.RA4fRGnlcpHHvfZWsZhVf4bju5l-yvl3J8d9TYmm34iOc130_assertion description "[Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7053.RA4fRGnlcpHHvfZWsZhVf4bju5l-yvl3J8d9TYmm34iOc130_provenance.
• NP7058.RA4qKYB_BkZs8Q3FbQMDYJnkjH_pfAmGIRZhwrBqxDr4g130_assertion description "[Absence of expression of the Wiskott-Aldrich syndrome protein in peripheral blood cells of Wiskott-Aldrich syndrome patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7058.RA4qKYB_BkZs8Q3FbQMDYJnkjH_pfAmGIRZhwrBqxDr4g130_provenance.
• NP7064.RA3B6nkq7rIA27MJgxQ9PiIPVzEWCYjNlZxO127bQ8Z_U130_assertion description "[Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7064.RA3B6nkq7rIA27MJgxQ9PiIPVzEWCYjNlZxO127bQ8Z_U130_provenance.
• NP7070.RAz3I7TlTHuKyhhXRM6AOZ-GhbDetBKhvJsvATLMFiR-s130_assertion description "[WDR62 is associated with the spindle pole and is mutated in human microcephaly.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7070.RAz3I7TlTHuKyhhXRM6AOZ-GhbDetBKhvJsvATLMFiR-s130_provenance.
• NP7075.RA8iKPLiVDwE5rUjuDpD-W93McW5xFPZHzxkWkai3beKs130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7075.RA8iKPLiVDwE5rUjuDpD-W93McW5xFPZHzxkWkai3beKs130_provenance.
• NP7079.RA58lmxWQSsMAwNo6gnFIyYZdDs9ToH1rZb6A_iY5gdi8130_assertion description "[Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7079.RA58lmxWQSsMAwNo6gnFIyYZdDs9ToH1rZb6A_iY5gdi8130_provenance.
• NP7081.RAzvEbqm6dlcg93Oim1eIjgRXcONTZ7wiAxpQv-QRWhF0130_assertion description "[Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7081.RAzvEbqm6dlcg93Oim1eIjgRXcONTZ7wiAxpQv-QRWhF0130_provenance.
• NP7084.RA9XXSm_ynY5xrjCZBvoU4i_DwcS5S3a2l-MNL-xHSR2M130_assertion description "[The DFNA6/14 critical region includes WFS1, the gene responsible for Wolfram syndrome, an autosomal recessive disorder characterized by diabetes mellitus and optic atrophy, and often, deafness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7084.RA9XXSm_ynY5xrjCZBvoU4i_DwcS5S3a2l-MNL-xHSR2M130_provenance.
• NP7088.RAz8S1MdeWAvwrbFfFBgvcacVkpG5uHjJ4Rwby88WT_44130_assertion description "[Kelch-like 3 and Cullin 3 regulate electrolyte homeostasis via ubiquitination and degradation of WNK4.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7088.RAz8S1MdeWAvwrbFfFBgvcacVkpG5uHjJ4Rwby88WT_44130_provenance.
• NP7091.RA_SbuDhiHi60F1TmZTHtyqfb2E56Qrp_Wl-AwvNz8FjY130_assertion description "[Recent insights into the role of Wnt10A in tooth development, and the finding of hypodontia in carriers of the autosomal recessive disorder, odontooncychodermal dysplasia, due to mutations in WNT10A (OMIM 257980; OODD), make WNT10A an interesting candidate gene for dental agenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7091.RA_SbuDhiHi60F1TmZTHtyqfb2E56Qrp_Wl-AwvNz8FjY130_provenance.
• NP7092.RAw54V6lf9MRYSdOqRpAT0nnAJHdOYl1sgiLTq7iHEbmE130_assertion description "[WNT10A has been associated with various syndromes with ectodermal dysplasia from severe autosomal recessive SchO?pf-Schulz-Passarge syndrome to odonto-onycho-dermal dysplasia and autosomal dominant hypodontia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7092.RAw54V6lf9MRYSdOqRpAT0nnAJHdOYl1sgiLTq7iHEbmE130_provenance.
• NP7099.RA0-WnRaq_ewjpkGOSsJ56wRu4mfPMctHITZBU2ehsy3E130_assertion description "[This collaborative work was designed to determine whether the WNT4 mutation could be identified in a group of adolescent girls with Mayer-Rokitansky-Kster-Hauser syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7099.RA0-WnRaq_ewjpkGOSsJ56wRu4mfPMctHITZBU2ehsy3E130_provenance.
• NP7101.RA_qG1W5kskpw6vQR_s_Y6kNoBRqjJRPxv89FhcwQOsaA130_assertion description "[SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7101.RA_qG1W5kskpw6vQR_s_Y6kNoBRqjJRPxv89FhcwQOsaA130_provenance.
• NP7103.RA_plcPuIgmur4hhQ-rpo2LyveNwK2QE7LhvSuCdrn3Bg130_assertion description "[Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7103.RA_plcPuIgmur4hhQ-rpo2LyveNwK2QE7LhvSuCdrn3Bg130_provenance.
• NP7104.RA3iEs8Jn42qwRkRikgadzWbHI0NTqbKazHdAjTY3CHsc130_assertion description "[Al-Awadi/Raas-Rothschild syndrome: two new cases and review.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7104.RA3iEs8Jn42qwRkRikgadzWbHI0NTqbKazHdAjTY3CHsc130_provenance.
• NP7110.RAzEvkr-OcDC5w98vT6oZg6yhAkyN9SkGTdBTb3B-eH2Q130_assertion description "[Constitutional mutations of the WT1 gene, encoding a zinc-finger transcription factor involved in renal and gonadal development, are found in most patients with Denys-Drash syndrome (DDS), or diffuse mesangial sclerosis (DMS) associated with pseudohermaphroditism and/or Wilms tumor (WT).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7110.RAzEvkr-OcDC5w98vT6oZg6yhAkyN9SkGTdBTb3B-eH2Q130_provenance.
• NP7116.RA7DVrM5CQIUVvk2ODLlxUaMfZzYzzc0E1SCqXgebo3wI130_assertion description "[Novel WT1 mutation (C388Y) in a female child with Denys-Drash syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7116.RA7DVrM5CQIUVvk2ODLlxUaMfZzYzzc0E1SCqXgebo3wI130_provenance.
• NP7118.RA_4mqWDkA79PTKj_Lu9gE74Yh1SI4RopgezJWncMMjvI130_assertion description "[A novel missense mutation of the Wt1 gene causing Denys-Drash syndrome with exceptionally mild renal manifestations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7118.RA_4mqWDkA79PTKj_Lu9gE74Yh1SI4RopgezJWncMMjvI130_provenance.
• NP7121.RA7VBOSgmCzhBmI0B9074H802-AzhLE7IKdvVVJ2WrNK0130_assertion description "[Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7121.RA7VBOSgmCzhBmI0B9074H802-AzhLE7IKdvVVJ2WrNK0130_provenance.
• NP7134.RA55zKOmnOWwJjPWPNXueLQZ1dKGHvYyKtYQzLUQQ_xqc130_assertion description "[Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7134.RA55zKOmnOWwJjPWPNXueLQZ1dKGHvYyKtYQzLUQQ_xqc130_provenance.
• NP7135.RAwjNbcugDUfgDErU6wYAhsCFEq87ZFhz_iOA1-iqAUnc130_assertion description "[Our results strongly suggest that the clinical heterogeneity in XP-A is due to different mutations in the XPAC gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7135.RAwjNbcugDUfgDErU6wYAhsCFEq87ZFhz_iOA1-iqAUnc130_provenance.
• NP7138.RA9Ru6TzJTaRPIYwLqinklEh3hl-33w7anPJXeZ0rhVo8130_assertion description "[Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7138.RA9Ru6TzJTaRPIYwLqinklEh3hl-33w7anPJXeZ0rhVo8130_provenance.
• NP7139.RA9_L9WmBvGwrRIStwYa3HIjdJ1NBVymxYOevr-gOGfVE130_assertion description "[Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7139.RA9_L9WmBvGwrRIStwYa3HIjdJ1NBVymxYOevr-gOGfVE130_provenance.
• NP7143.RAw5J-T1DsduZBbfbduSNHsxUPw_hidmCLBaiGJ_q5C3o130_assertion description "[Specific immunoglobulin E responses in ZAP-70-deficient patients are mediated by Syk-dependent T-cell receptor signalling.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7143.RAw5J-T1DsduZBbfbduSNHsxUPw_hidmCLBaiGJ_q5C3o130_provenance.
• NP7148.RAwQ29V2D5Tbe-4aKVXA4bqtCM5flWr39Vzx_6_dG_nM8130_assertion description "[A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7148.RAwQ29V2D5Tbe-4aKVXA4bqtCM5flWr39Vzx_6_dG_nM8130_provenance.
• NP7161.RA74Q-kVNlUAKg486rdEzxWvDUXsoO-Wu1lQ2xZPwQxhg130_assertion description "[Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domain.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7161.RA74Q-kVNlUAKg486rdEzxWvDUXsoO-Wu1lQ2xZPwQxhg130_provenance.
• NP7169.RAyDHiBn02_-ARzPV0LX4VtDnU9ttMNukgm-KSP9q5o-8130_assertion description "[Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7169.RAyDHiBn02_-ARzPV0LX4VtDnU9ttMNukgm-KSP9q5o-8130_provenance.
• NP7172.RA_imASVRPZ3hEARSeSAco7C4DaAUtjNt9eVwAb1GfVHI130_assertion description "[Increased risk for Alzheimer disease with the interaction of MPO and A2M polymorphisms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7172.RA_imASVRPZ3hEARSeSAco7C4DaAUtjNt9eVwAb1GfVHI130_provenance.
• NP7174.RA2VJJ8d2PXly3GUP7PHUf_9-we1gEggVcmjhwN5uMTs8130_assertion description "[Genetic association of an alpha2-macroglobulin (Val1000lle) polymorphism and Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7174.RA2VJJ8d2PXly3GUP7PHUf_9-we1gEggVcmjhwN5uMTs8130_provenance.
• NP7181.RA13sHXjtqQ9sPd5e2Cqq5IX9nyx3r4XHAkgW9alPlwlA130_assertion description "[Flavopiridol induces apoptosis and caspase-3 activation of a newly characterized Burkitt's lymphoma cell line containing mutant p53 genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7181.RA13sHXjtqQ9sPd5e2Cqq5IX9nyx3r4XHAkgW9alPlwlA130_provenance.
• NP7193.RA5eaO1ynbQIvClik5xDGNGaxkLhnxhBE_ptolb1OP3C4130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7193.RA5eaO1ynbQIvClik5xDGNGaxkLhnxhBE_ptolb1OP3C4130_provenance.
• NP7194.RA4TGwueH5Qrpn807wgbwtVokMDDF4lyZUks-YkYstC-c130_assertion description "[Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7194.RA4TGwueH5Qrpn807wgbwtVokMDDF4lyZUks-YkYstC-c130_provenance.
• NP7210.RA1Q94h9TZtXenu2e19c7yOxwabj_YNqy-61bzmyr1XdE130_assertion description "[Niacin improves renal lipid metabolism and slows progression in chronic kidney disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7210.RA1Q94h9TZtXenu2e19c7yOxwabj_YNqy-61bzmyr1XdE130_provenance.
• NP7213.RA5df9gXbuvUun1TJEpmSNne_6WW_PlR3DHb2rPATFG9g130_assertion description "[Mutations in the ATP-binding cassette transporter 1 (ABCA1) gene have been recently identified as the molecular defect in Tangier disease (TD) and familial high density lipoprotein deficiency (FHA).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7213.RA5df9gXbuvUun1TJEpmSNne_6WW_PlR3DHb2rPATFG9g130_provenance.
• NP7214.RA6c4F83flXu4SIFnvY-VBDnGCGX3LdPTSlG-d98qnjmg130_assertion description "[Transbilayer phospholipid movements in ABCA1-deficient cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7214.RA6c4F83flXu4SIFnvY-VBDnGCGX3LdPTSlG-d98qnjmg130_provenance.
• NP7216.RA57NLSXiWsJB9FfOkdzGy31af29-bcZZ_2AduB-oesns130_assertion description "[No de novo mutation in ABCA12 has yet been reported either in HI or lamellar ichthyosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7216.RA57NLSXiWsJB9FfOkdzGy31af29-bcZZ_2AduB-oesns130_provenance.
• NP7218.RA4NMy9Nhf7GhDmiARc3ZRg-HsHUAOa_4auVx8aw4Fyh0130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7218.RA4NMy9Nhf7GhDmiARc3ZRg-HsHUAOa_4auVx8aw4Fyh0130_provenance.
• NP7219.RA5Jp7MiLQoxlJaoXsrPmGxgWbAZiK13H2wQLYL_5hI50130_assertion description "[A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7219.RA5Jp7MiLQoxlJaoXsrPmGxgWbAZiK13H2wQLYL_5hI50130_provenance.
• NP7223.RA5SQpYSf9tUhiK4KtHMkXNGZBihXfuAAiIELgNZmVzkE130_assertion description "[Diseases caused by defects in the visual cycle: retinoids as potential therapeutic agents.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7223.RA5SQpYSf9tUhiK4KtHMkXNGZBihXfuAAiIELgNZmVzkE130_provenance.
• NP7224.RA1z5aXAGozYtqLVTQadyOWP6jwMqaGSl5H7GC9KZJQFc130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7224.RA1z5aXAGozYtqLVTQadyOWP6jwMqaGSl5H7GC9KZJQFc130_provenance.
• NP7227.RAxwsz_GcoZxL8K2t6GxBU9mZKbMh4dSbVlWJYtKUYwG0130_assertion description "[Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7227.RAxwsz_GcoZxL8K2t6GxBU9mZKbMh4dSbVlWJYtKUYwG0130_provenance.
• NP7229.RA3Os8vXl73wZ0NAkNuga-G_fvqBr7d6qLs0GzdyQ_IHk130_assertion description "[Our data supports the impact of ABCB1 on effectiveness of esophageal cancer treatment.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7229.RA3Os8vXl73wZ0NAkNuga-G_fvqBr7d6qLs0GzdyQ_IHk130_provenance.
• NP7230.RAxF4Fe-_WzoijF3HSQbgY-xXeEYOQfFqmUUwdI6Yx0pw130_assertion description "[P-glycoprotein mediates celecoxib-induced apoptosis in multiple drug-resistant cell lines.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7230.RAxF4Fe-_WzoijF3HSQbgY-xXeEYOQfFqmUUwdI6Yx0pw130_provenance.
• NP7233.RA4Qz0wIRrqqw6uZ9iWxE-HpWy_2fZNAGLUgg7W114g8w130_assertion description "[Phenotypic and genotypic assessment of concomitant drug-induced toxic effects in liver, kidney and blood.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7233.RA4Qz0wIRrqqw6uZ9iWxE-HpWy_2fZNAGLUgg7W114g8w130_provenance.
• NP7237.RA6YKuUkfN4yyH4FohvxfuAPorI79Ptv6t7yvtk0Ie5BI130_assertion description "[Our data supports the impact of ABCB1 on effectiveness of esophageal cancer treatment.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7237.RA6YKuUkfN4yyH4FohvxfuAPorI79Ptv6t7yvtk0Ie5BI130_provenance.
• NP7252.RA12kH-kr5vZ80DxsuAob4E_mLDs7SSEXvfcPy1j0jK9E130_assertion description "[Our findings suggest that the ABCB1 gene and exposure to organochlorine insecticides interact to increase PD risk: in subjects professionally exposed to organochlorines, polymorphisms associated with a decreased ability of ABCB1 to clear xenobiotics from the brain increased the risk of PD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7252.RA12kH-kr5vZ80DxsuAob4E_mLDs7SSEXvfcPy1j0jK9E130_provenance.
• NP7271.RA2k58XRm1fV0V5pb2JIxvvHNvK_QE-NAiy16un9cW--Y130_assertion description "[Hepatocyte IKK2 protects Mdr2-/- mice from chronic liver failure.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7271.RA2k58XRm1fV0V5pb2JIxvvHNvK_QE-NAiy16un9cW--Y130_provenance.
• NP7272.RA-XWp4DcTNnFxH_xIDfl6k9yzXMQJcl7s5zqvWF2pY2E130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7272.RA-XWp4DcTNnFxH_xIDfl6k9yzXMQJcl7s5zqvWF2pY2E130_provenance.
• NP7275.RA3AnuOlkvppyNCpmBWSqmab1kfmhcM2S80sC_WiI4P44130_assertion description "[Integrin alphavbeta6 is a marker of the progression of biliary and portal liver fibrosis and a novel target for antifibrotic therapies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7275.RA3AnuOlkvppyNCpmBWSqmab1kfmhcM2S80sC_WiI4P44130_provenance.
• NP7276.RAzieE9fYflOWd-UCUZ8Q9Ax-_3B1usHgXuwluzOlkCkY130_assertion description "[Effects of Ursodeoxycholate and cholate feeding on liver disease in FVB mice with a disrupted mdr2 P-glycoprotein gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7276.RAzieE9fYflOWd-UCUZ8Q9Ax-_3B1usHgXuwluzOlkCkY130_provenance.
• NP7279.RA_as1m_tpobKUzj5QFStHrdlTXPdXEAEz1rIZL0k61SI130_assertion description "[Mechanisms of peripheral neuropathy associated with bortezomib and vincristine in patients with newly diagnosed multiple myeloma: a prospective analysis of data from the HOVON-65/GMMG-HD4 trial.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7279.RA_as1m_tpobKUzj5QFStHrdlTXPdXEAEz1rIZL0k61SI130_provenance.
• NP7282.RAwkG02EpFKqGHbe9S1X3vKJ2AW9siYNUJROxDDvUaph8130_assertion description "[Progesterone resistance in PCOS endometrium: a microarray analysis in clomiphene citrate-treated and artificial menstrual cycles.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7282.RAwkG02EpFKqGHbe9S1X3vKJ2AW9siYNUJROxDDvUaph8130_provenance.
• NP7283.RA0LkS80U-PEQ_yuIMJH_rLPu0QADnBvD-iR5CQJFrFLk130_assertion description "[Mutations in the adenosine triphosphate-binding cassette protein ABCB7, identified in XLSA with ataxia (XLSA-A), disrupt the maturation of cytosolic (Fe-S) clusters, leading to mitochondrial Fe accumulation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7283.RA0LkS80U-PEQ_yuIMJH_rLPu0QADnBvD-iR5CQJFrFLk130_provenance.
• NP7285.RAyO681_aSOCHL3u8VOG2LDvsKn9CPdNm7Sdu4_9Tw9PE130_assertion description "[SOD2 deficient erythroid cells up-regulate transferrin receptor and down-regulate mitochondrial biogenesis and metabolism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7285.RAyO681_aSOCHL3u8VOG2LDvsKn9CPdNm7Sdu4_9Tw9PE130_provenance.
• NP7286.RA01L-y7d5u-ejdYiXSsDH4XmIirw1wRoDqktkFwG9l3A130_assertion description "[Mutations in the adenosine triphosphate-binding cassette protein ABCB7, identified in XLSA with ataxia (XLSA-A), disrupt the maturation of cytosolic (Fe-S) clusters, leading to mitochondrial Fe accumulation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7286.RA01L-y7d5u-ejdYiXSsDH4XmIirw1wRoDqktkFwG9l3A130_provenance.
• NP7287.RA8vS4bLIBxXUbMyST7MviV615phtmpZKWlicd_NU8PzA130_assertion description "[NAD(P)H oxidase and multidrug resistance protein genetic polymorphisms are associated with doxorubicin-induced cardiotoxicity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7287.RA8vS4bLIBxXUbMyST7MviV615phtmpZKWlicd_NU8PzA130_provenance.
• NP7294.RA581S_i9wxGXf7J2Acj-1XhTbSwEa6RGl6wHBG-m8Mz4130_assertion description "[A nonsynonymous variation in MRP2/ABCC2 is associated with neurological adverse drug reactions of carbamazepine in patients with epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7294.RA581S_i9wxGXf7J2Acj-1XhTbSwEa6RGl6wHBG-m8Mz4130_provenance.
• NP7299.RA5WZNlMM_EU4Tqy7BGCVyUuwkXXXiWmRcPOTWTDx3oD8130_assertion description "[Methotrexate-induced subacute neurotoxicity in a child with acute lymphoblastic leukemia carrying genetic polymorphisms related to folate homeostasis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7299.RA5WZNlMM_EU4Tqy7BGCVyUuwkXXXiWmRcPOTWTDx3oD8130_provenance.
• NP7301.RAyLdSp390ISrQQ9QjRRqiCvSZcBFKThtlxSCqH50vhHI130_assertion description "[Expression of the multidrug transporter MRP2 in the blood-brain barrier after pilocarpine-induced seizures in rats.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7301.RAyLdSp390ISrQQ9QjRRqiCvSZcBFKThtlxSCqH50vhHI130_provenance.
• NP7313.RA3VirSUvHEUWQLKh_8K5B5Ya-udSA1S7s2LTM9FmDLrM130_assertion description "[Expression of the human ABCC6 gene is induced by retinoids through the retinoid X receptor.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7313.RA3VirSUvHEUWQLKh_8K5B5Ya-udSA1S7s2LTM9FmDLrM130_provenance.
• NP7318.RA23gkptAxIy06iGakVNN8B3UrL0FT-sfzNyQecZzQMQc130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7318.RA23gkptAxIy06iGakVNN8B3UrL0FT-sfzNyQecZzQMQc130_provenance.
• NP7322.RA2yCzi-SL3aesbYzWwANHGqMzH3XyqvMyau8Riz5hjgk130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7322.RA2yCzi-SL3aesbYzWwANHGqMzH3XyqvMyau8Riz5hjgk130_provenance.
• NP7324.RA0EzvH7Ir0exjpi8fQPXk7LDhOt1ymYryugj6hh5dUPo130_assertion description "[Dominant missense mutations in ABCC9 cause Cant syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7324.RA0EzvH7Ir0exjpi8fQPXk7LDhOt1ymYryugj6hh5dUPo130_provenance.
• NP7325.RA9_dRsFhBBiah5B46VYYEdx7fKaOPPx5ZoQ9MkLApgkA130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7325.RA9_dRsFhBBiah5B46VYYEdx7fKaOPPx5ZoQ9MkLApgkA130_provenance.
• NP7327.RAwJ_m9JugMAC-E_FEiUVS2HNf9w-BrP9ZJ2wp1fz4ZXw130_assertion description "[Unique transcriptome, pathways, and networks in the human endometrial fibroblast response to progesterone in endometriosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7327.RAwJ_m9JugMAC-E_FEiUVS2HNf9w-BrP9ZJ2wp1fz4ZXw130_provenance.
• NP7329.RA9Ery_oTh_zwrid6YxCyzLotjRs7caKTy_Wrm_L2dWCM130_assertion description "[Effect of testosterone metabolites on ABC half-transporter relative gene expression in X-linked adrenoleukodystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7329.RA9Ery_oTh_zwrid6YxCyzLotjRs7caKTy_Wrm_L2dWCM130_provenance.
• NP7331.RA8cCC2sW5LREI4eEdOyjg9dy4K8aBbQ3CE46KpzdjQyg130_assertion description "[Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7331.RA8cCC2sW5LREI4eEdOyjg9dy4K8aBbQ3CE46KpzdjQyg130_provenance.
• NP7341.RAyiOAxQyVjJZPuVYxkIoFtupW2Cv0vf0mQCNkF_QGkMo130_assertion description "[Methotrexate-induced subacute neurotoxicity in a child with acute lymphoblastic leukemia carrying genetic polymorphisms related to folate homeostasis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7341.RAyiOAxQyVjJZPuVYxkIoFtupW2Cv0vf0mQCNkF_QGkMo130_provenance.

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