Matches in Nanopublications for { ?s <http://purl.org/dc/terms/description> ?o ?g. }
- NP6376.RAW_vmyoZPnpqwfzjlezLDrmRXwrD9egPbxPJBuXgDBAc130_assertion description "[To analyze the steroid 5-alpha reductase type 2 gene (SRD5A2) in 2 siblings with severe male pseudohermaphroditism suspected to have 5-alpha reductase deficiency in a Turkish family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6376.RAW_vmyoZPnpqwfzjlezLDrmRXwrD9egPbxPJBuXgDBAc130_provenance.
- NP6379.RAWObEyoICDR70E12Y1y27_42CMKHgQLUsh5JD4_wCW_o130_assertion description "[True hermaphroditism in an XY individual due to a familial point mutation of the SRY gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6379.RAWObEyoICDR70E12Y1y27_42CMKHgQLUsh5JD4_wCW_o130_provenance.
- NP6386.RAXZ4dahVaVIImS1pRf_6iFdIMTQPdzWHtFG_XfwiQyTo130_assertion description "[Molecular basis of mammalian sexual determination: activation of Mllerian inhibiting substance gene expression by SRY.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6386.RAXZ4dahVaVIImS1pRf_6iFdIMTQPdzWHtFG_XfwiQyTo130_provenance.
- NP6398.RAeF-XiR-26H1VOUpVpKcHOhTF358lM14IAP_OICqODvs130_assertion description "[STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6398.RAeF-XiR-26H1VOUpVpKcHOhTF358lM14IAP_OICqODvs130_provenance.
- NP6399.RAbMwZ8AyYvXSj42qzsqFr_b8-KB-gRhr62tujX2s30Go130_assertion description "[STAT3 mutations in the hyper-IgE syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6399.RAbMwZ8AyYvXSj42qzsqFr_b8-KB-gRhr62tujX2s30Go130_provenance.
- NP6400.RATI9SzxsxerndZ1qi4BK_z-U1p9m7OD6Flpq9sFAN4PU130_assertion description "[Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6400.RATI9SzxsxerndZ1qi4BK_z-U1p9m7OD6Flpq9sFAN4PU130_provenance.
- NP6402.RAbco1aUXlukBetlgUX0iOZEQZhHqklbl5HxRLBY70rW8130_assertion description "[A novel missense mutation in the SH2 domain of the STAT5B gene results in a transcriptionally inactive STAT5b associated with severe IGF-I deficiency, immune dysfunction, and lack of pulmonary disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6402.RAbco1aUXlukBetlgUX0iOZEQZhHqklbl5HxRLBY70rW8130_provenance.
- NP6410.RAYOtectp6S8JpsLunfZ9ro0WJzk-Jvlqu2VRTuhqOUYE130_assertion description "[The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6410.RAYOtectp6S8JpsLunfZ9ro0WJzk-Jvlqu2VRTuhqOUYE130_provenance.
- NP6416.RAcIBTTg1k-RcbHJe1zd0CxW11ggxFnYUy39Fr0t_NxtQ130_assertion description "[De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6416.RAcIBTTg1k-RcbHJe1zd0CxW11ggxFnYUy39Fr0t_NxtQ130_provenance.
- NP6418.RAX11ihcr_34ZiIs4fV4y9dEOLEflV0UMbJinRvdu5YaY130_assertion description "[Our work shows that STXBP2 deficiency causes FHL5.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6418.RAX11ihcr_34ZiIs4fV4y9dEOLEflV0UMbJinRvdu5YaY130_provenance.
- NP6420.RAYN5CCCPHu82tjvnxlT50Oj_YX_BmbevhIH4eN7Z883U130_assertion description "[Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6420.RAYN5CCCPHu82tjvnxlT50Oj_YX_BmbevhIH4eN7Z883U130_provenance.
- NP6421.RAXFYKLptQO6VKaFwn4ZQy_CM8lAHD4MmhxU9iHyNEhm4130_assertion description "[The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6421.RAXFYKLptQO6VKaFwn4ZQy_CM8lAHD4MmhxU9iHyNEhm4130_provenance.
- NP6430.RAV5-O-H1-Ag6JsgAgEmuEWSm0EBA_jQrVhiH-a9x7I0s130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6430.RAV5-O-H1-Ag6JsgAgEmuEWSm0EBA_jQrVhiH-a9x7I0s130_provenance.
- NP6431.RAd1vKTCSUJ4gVgTofbrVYBCL4NX7NIyYPNsG-eMCEnow130_assertion description "[(1998) found nine mutations in the surfeit 1 (SURF1) gene in LS families with COX deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6431.RAd1vKTCSUJ4gVgTofbrVYBCL4NX7NIyYPNsG-eMCEnow130_provenance.
- NP6441.RAev-2S8tqsv0gyeLIfGJwWlZkcKiBt2gp83i4HPvVXC4130_assertion description "[Recent studies identified rare missense mutations in amyotrophic lateral sclerosis (ALS) patients in the TARDBP gene encoding TAR DNA binding protein (TDP)-43, the major protein of the ubiquitinated inclusions (UBIs) found in affected motor neurons (MNs).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6441.RAev-2S8tqsv0gyeLIfGJwWlZkcKiBt2gp83i4HPvVXC4130_provenance.
- NP6444.RAbRL1ETsLJt94kvtPUSeB6rNh1WOkXCQTFuJ2_zm42Z8130_assertion description "[TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6444.RAbRL1ETsLJt94kvtPUSeB6rNh1WOkXCQTFuJ2_zm42Z8130_provenance.
- NP6454.RAbFxKzEkg9gL3mB3uqw2u7GXUDfe_PwyK9CnoW8Oo3F4130_assertion description "[In the present study, we found that two compound heterozygous missense mutations (D147H and A509V) in TBC1D24, a gene of unknown function, are responsible for FIME.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6454.RAbFxKzEkg9gL3mB3uqw2u7GXUDfe_PwyK9CnoW8Oo3F4130_provenance.
- NP6456.RAWL78Gt8PddAwCw823Ido6fOOdihZRmk57p8OSV3iq0I130_assertion description "[A pituitary cell-restricted T box factor, Tpit, activates POMC transcription in cooperation with Pitx homeoproteins.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6456.RAWL78Gt8PddAwCw823Ido6fOOdihZRmk57p8OSV3iq0I130_provenance.
- NP6462.RAXrSTB9daMiWsBLT2mMZuGTqK47F7ePNqvSbA0F8gkw4130_assertion description "[The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6462.RAXrSTB9daMiWsBLT2mMZuGTqK47F7ePNqvSbA0F8gkw4130_provenance.
- NP6463.RAbu6Hfc0civBXaPQUWm4vbRL01XbbhksoGmoplqRQbkc130_assertion description "[We conclude that expression of TBX22 is entirely consistent with the CPX phenotype and that the mouse should provide a useful model for elucidating its role in craniofacial development.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6463.RAbu6Hfc0civBXaPQUWm4vbRL01XbbhksoGmoplqRQbkc130_provenance.
- NP6465.RAWNGqqdYw1FJf0f6xI-TfZf_N6VrnK4ttEZ_mgVjwzIA130_assertion description "[The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6465.RAWNGqqdYw1FJf0f6xI-TfZf_N6VrnK4ttEZ_mgVjwzIA130_provenance.
- NP6467.RAcpDcr6K7Fm0xVLkeweC3ZkVxsJRuFh7GERw_J0IIHKs130_assertion description "[The cardiac transcription factor TBX5 strongly regulates expression of MYH6, but mutant forms of TBX5, which cause Holt-Oram syndrome, do not.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6467.RAcpDcr6K7Fm0xVLkeweC3ZkVxsJRuFh7GERw_J0IIHKs130_provenance.
- NP6473.RAY4anLxeW-tXRxwnByOc3FffnXTzLb0dMk4S47SWFf-w130_assertion description "[Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6473.RAY4anLxeW-tXRxwnByOc3FffnXTzLb0dMk4S47SWFf-w130_provenance.
- NP6479.RAZ3Of7S192fQpwnwu2u95yO0N3-v0Ty1kJWO2hhaRFfc130_assertion description "[TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6479.RAZ3Of7S192fQpwnwu2u95yO0N3-v0Ty1kJWO2hhaRFfc130_provenance.
- NP6485.RAcxpjAtDcFHrdTU_5Wv8pCCaBqWW7eM0C3Xp_elKjMmI130_assertion description "[The human alpha-tectorin (TECTA) gene has recently been cloned and proposed to be involved in autosomal dominant non-syndromic hearing impairment (NSHI) in two families linked to the DFNA12 locus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6485.RAcxpjAtDcFHrdTU_5Wv8pCCaBqWW7eM0C3Xp_elKjMmI130_provenance.
- NP6492.RAScvbnaHmlWMPP8DvbPs3MLRQFb8gEupETmHR8ujp0Xc130_assertion description "[Audioprofiling identifies TECTA and GJB2-related deafness segregating in a single extended pedigree.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6492.RAScvbnaHmlWMPP8DvbPs3MLRQFb8gEupETmHR8ujp0Xc130_provenance.
- NP6496.RAXVQUZPlYHfWaFEUaXQA0BpoQgpJ_Zb5fpClz-23JJII130_assertion description "[Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6496.RAXVQUZPlYHfWaFEUaXQA0BpoQgpJ_Zb5fpClz-23JJII130_provenance.
- NP6507.RAQGqzRCyzlcOk-jfUhp8skQwoffTTmZrqriLgnVtPX6A130_assertion description "[Transforming growth factor-beta 1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6507.RAQGqzRCyzlcOk-jfUhp8skQwoffTTmZrqriLgnVtPX6A130_provenance.
- NP6514.RAWrmJqa2ujigFd6K74SIFUcAq0FmKRiuANeP4oCAQqBQ130_assertion description "[BIGH3 mutation spectrum in corneal dystrophies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6514.RAWrmJqa2ujigFd6K74SIFUcAq0FmKRiuANeP4oCAQqBQ130_provenance.
- NP6516.RAbiKMGWuhgDSw6kjeyGtgEQE6koG5eoGFVNIjsXy22Mk130_assertion description "[Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6516.RAbiKMGWuhgDSw6kjeyGtgEQE6koG5eoGFVNIjsXy22Mk130_provenance.
- NP6518.RAdt62YstO2VZsC6yVTNLtRpqDkL-UZ5WZkW7fVfUhIEk130_assertion description "[A novel H572R mutation in the transforming growth factor-beta-induced gene in a Thai family with lattice corneal dystrophy type I.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6518.RAdt62YstO2VZsC6yVTNLtRpqDkL-UZ5WZkW7fVfUhIEk130_provenance.
- NP6519.RASzAca_T2je-w1k7YYrb4GoM88lEnd6DbnaCYZlHi5GY130_assertion description "[In addition the corneal phenotypes induced by changes at R124 and R555 are amino acid specific: R124C in CDLI, R555W and R124S in CDGGI, R124H in CDA, R124L in CRRB, and R555Q in CDTB.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6519.RASzAca_T2je-w1k7YYrb4GoM88lEnd6DbnaCYZlHi5GY130_provenance.
- NP6522.RAfGvCh3sDagLZuJRxPt81m_SOqtuY9qByvlak0-0IXuQ130_assertion description "[Histologic phenotype-genotype correlation of corneal dystrophies associated with eight distinct mutations in the TGFBI gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6522.RAfGvCh3sDagLZuJRxPt81m_SOqtuY9qByvlak0-0IXuQ130_provenance.
- NP6523.RAag_PjYCP8aG0_dBdPmTCvllM7ORTBJ-wXmWncA7YfHI130_assertion description "[BIGH3 mutation spectrum in corneal dystrophies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6523.RAag_PjYCP8aG0_dBdPmTCvllM7ORTBJ-wXmWncA7YfHI130_provenance.
- NP6526.RAbaFnlwcJxdZ-dw4-Rtkl7g_2XqBWStv-sdWEhHB5sWI130_assertion description "[TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6526.RAbaFnlwcJxdZ-dw4-Rtkl7g_2XqBWStv-sdWEhHB5sWI130_provenance.
- NP6527.RAUb-_JH2HtTggGdIJch2Mbg9LZwdGI_t5kryC7J0mPTI130_assertion description "[BIGH3 mutation spectrum in corneal dystrophies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6527.RAUb-_JH2HtTggGdIJch2Mbg9LZwdGI_t5kryC7J0mPTI130_provenance.
- NP6533.RAR9fuOWcShTK32-3Hdeip6MSwNzvvjOMY8oi4c1m0pLs130_assertion description "[Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6533.RAR9fuOWcShTK32-3Hdeip6MSwNzvvjOMY8oi4c1m0pLs130_provenance.
- NP6535.RAfFMuvLmwOYn8lvkaIwP1MXd0eRtf9cB56yDg-1Sqo5E130_assertion description "[Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6535.RAfFMuvLmwOYn8lvkaIwP1MXd0eRtf9cB56yDg-1Sqo5E130_provenance.
- NP6539.RAckua-PuuzIyjeXwaH6G7EuZuFjVG_lxLF6Z2pYQR8Z0130_assertion description "[Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6539.RAckua-PuuzIyjeXwaH6G7EuZuFjVG_lxLF6Z2pYQR8Z0130_provenance.
- NP6540.RAeMO2FJEiSj7ncH_QSmRdEfokztSOhTnpd99JR8ce2-I130_assertion description "[A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6540.RAeMO2FJEiSj7ncH_QSmRdEfokztSOhTnpd99JR8ce2-I130_provenance.
- NP6545.RAcRTB0FIbaXzIX-gTX3v59CpZvlbahSj_6xJmizj0lQQ130_assertion description "[A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6545.RAcRTB0FIbaXzIX-gTX3v59CpZvlbahSj_6xJmizj0lQQ130_provenance.
- NP6549.RAaON9nfrqU7gCnjKkLJsKGXGi_axk1XYROJkCVE_BgWU130_assertion description "[Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6549.RAaON9nfrqU7gCnjKkLJsKGXGi_axk1XYROJkCVE_BgWU130_provenance.
- NP6550.RAbDglcOjFr2ZlqaCaj13T3BfoL1AH2jDd7QXNM7B60sQ130_assertion description "[Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6550.RAbDglcOjFr2ZlqaCaj13T3BfoL1AH2jDd7QXNM7B60sQ130_provenance.
- NP6551.RAWGaJe1Eym0qvaYuew0qAWlTgxhLxDmE6ppb50eBt0bI130_assertion description "[Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6551.RAWGaJe1Eym0qvaYuew0qAWlTgxhLxDmE6ppb50eBt0bI130_provenance.
- NP6554.RATxw2l4c5jZ7tZFy58FLetbFtNhOikV6V0mhbXOw8LWo130_assertion description "[We recently mapped the disease locus for severe autosomal recessive lamellar ichthyosis (LI) to chromosome 14q11 and showed complete linkage with TGM1, the gene encoding transglutaminase 1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6554.RATxw2l4c5jZ7tZFy58FLetbFtNhOikV6V0mhbXOw8LWo130_provenance.
- NP6560.RAVgF_osD5AJ4Z4P_aNAJwkecynwXf8Q4VP8Pv_Z4hUks130_assertion description "[A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6560.RAVgF_osD5AJ4Z4P_aNAJwkecynwXf8Q4VP8Pv_Z4hUks130_provenance.
- NP6565.RAfS-7G8xQo6Xf9zQHtNSurjZvsA4fl0ixzIOFMyB7S78130_assertion description "[The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6565.RAfS-7G8xQo6Xf9zQHtNSurjZvsA4fl0ixzIOFMyB7S78130_provenance.
- NP6571.RATIbQhbU4oGsPmWEmMVua5lpt_1A-GjS4cAh4RYmgLb4130_assertion description "[Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6571.RATIbQhbU4oGsPmWEmMVua5lpt_1A-GjS4cAh4RYmgLb4130_provenance.
- NP6579.RAei7Tq2lsYCgIFWAvF7WcaLn5NpVvw2G8snVsOAdAajs130_assertion description "[A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6579.RAei7Tq2lsYCgIFWAvF7WcaLn5NpVvw2G8snVsOAdAajs130_provenance.
- NP6581.RAaR-O9ahaCc5VW0UL3cjRU54drUrFLYeOlymCaeu-NiQ130_assertion description "[Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6581.RAaR-O9ahaCc5VW0UL3cjRU54drUrFLYeOlymCaeu-NiQ130_provenance.
- NP6584.RAZEvkxGtfwhnSQnrTuJO7iX0HkipKivNlXT5RLdNDxto130_assertion description "[Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6584.RAZEvkxGtfwhnSQnrTuJO7iX0HkipKivNlXT5RLdNDxto130_provenance.
- NP6586.RAQCJCCXpNY3il4DKCPIXY4zVFhWoUxEgwNPCIWEBoFdY130_assertion description "[Rapid molecular diagnosis of mutations associated with generalized thyroid hormone resistance by PCR-coupled automated direct sequencing of genomic DNA: detection of two novel mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6586.RAQCJCCXpNY3il4DKCPIXY4zVFhWoUxEgwNPCIWEBoFdY130_provenance.
- NP6591.RAfhifQ7LHEL6eDkcrcltkN3WJcbmaKzza-Q2EbfpcxY8130_assertion description "[Characterization of seven novel mutations of the c-erbA beta gene in unrelated kindreds with generalized thyroid hormone resistance. Evidence for two `hot spot` regions of the ligand binding domain.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6591.RAfhifQ7LHEL6eDkcrcltkN3WJcbmaKzza-Q2EbfpcxY8130_provenance.
- NP6595.RARzp0e9P9WrXOhcK3hmVAZY1yvLOXfQgZqJz0dfgZ1bg130_assertion description "[Mohr-Tranebjaerg syndrome is a progressive, neurodegenerative disorder caused by loss-of-function mutations in the DDP1/TIMM8A gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6595.RARzp0e9P9WrXOhcK3hmVAZY1yvLOXfQgZqJz0dfgZ1bg130_provenance.
- NP6598.RAYZniTo9UHU4D-talwKvoaaLy-Y2HL-ULt9CXPV_PnwA130_assertion description "[Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6598.RAYZniTo9UHU4D-talwKvoaaLy-Y2HL-ULt9CXPV_PnwA130_provenance.
- NP6599.RARtE0HHhehWcGNckHidCgKOfEWAS_UNLFeaeVciENwSo130_assertion description "[Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6599.RARtE0HHhehWcGNckHidCgKOfEWAS_UNLFeaeVciENwSo130_provenance.
- NP6600.RASPjDa78-93G3nfk0E-3AKn3dV94T6sLphs5lnE9ltXI130_assertion description "[Sorsby's fundus dystrophy (SFD) is an autosomal dominant retinal degeneration caused by mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6600.RASPjDa78-93G3nfk0E-3AKn3dV94T6sLphs5lnE9ltXI130_provenance.
- NP6605.RAT0aPfdAypuxkAGfUnhQH4i0cJl8GZEM8LkSO5O9mx3A130_assertion description "[Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6605.RAT0aPfdAypuxkAGfUnhQH4i0cJl8GZEM8LkSO5O9mx3A130_provenance.
- NP6609.RAYd5DUKJRlt_T64WlI-vg0uWbp6PmSPNqfGQOJmhtFLo130_assertion description "[TLR3 deficiency in patients with herpes simplex encephalitis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6609.RAYd5DUKJRlt_T64WlI-vg0uWbp6PmSPNqfGQOJmhtFLo130_provenance.
- NP6610.RAaFuwNVe_yki667BB9wsW2qC2_-blsVBM6ir_xI3K_Hw130_assertion description "[Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6610.RAaFuwNVe_yki667BB9wsW2qC2_-blsVBM6ir_xI3K_Hw130_provenance.
- NP6611.RAYGtl6j2AsUpI6usmmlgOMHugqUPtKWAFWzGCTC4u_2A130_assertion description "[Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6611.RAYGtl6j2AsUpI6usmmlgOMHugqUPtKWAFWzGCTC4u_2A130_provenance.
- NP6616.RAcu6T75Pv9R720q8eec-CIodEJhpFDQtGXUY4hjRjIns130_assertion description "[We now report that MKS2 and CORS2 (JBTS2) loci are allelic and caused by mutations in TMEM216, which encodes an uncharacterized tetraspan transmembrane protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6616.RAcu6T75Pv9R720q8eec-CIodEJhpFDQtGXUY4hjRjIns130_provenance.
- NP6621.RAddjv89TOYKKWofoqcAW717n2neoeOsJlGqldIVUoK5g130_assertion description "[Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6621.RAddjv89TOYKKWofoqcAW717n2neoeOsJlGqldIVUoK5g130_provenance.
- NP6634.RAa39YSGmamyLHjzwwAx0bMEoJVR_aePx2sJ_H4RRAJks130_assertion description "[Collectively, our results extend the pattern of TMPRSS6 mutations associated with IRIDA and propose a model of causality for some of the novel missense mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6634.RAa39YSGmamyLHjzwwAx0bMEoJVR_aePx2sJ_H4RRAJks130_provenance.
- NP6636.RAaxfaEeHuKF3BO3Rm-vzS3520786b0QizVFPSDmqF7aw130_assertion description "[Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6636.RAaxfaEeHuKF3BO3Rm-vzS3520786b0QizVFPSDmqF7aw130_provenance.
- NP6641.RAWxeKsjgB5Z64ZG5VOoi7jQ8l9YIB6Ey2L8Uvg4d3p0o130_assertion description "[TACI is mutant in common variable immunodeficiency and IgA deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6641.RAWxeKsjgB5Z64ZG5VOoi7jQ8l9YIB6Ey2L8Uvg4d3p0o130_provenance.
- NP6642.RAf57b3vnxMQxguYJ4eqmS2mrCis9F3TAbLl7WwLRkfYc130_assertion description "[TNFR1-associated periodic syndromes (TRAPS) establish an important class of mutations in TNF receptors.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6642.RAf57b3vnxMQxguYJ4eqmS2mrCis9F3TAbLl7WwLRkfYc130_provenance.
- NP6645.RAQF6aJVJxXsrFGx3dxMaGX93rYYxJNF1In58dkF-rSBc130_assertion description "[The presence of TNFRSF1A shedding defects and low sTNFRSF1A levels in 3 families without a TNFRSF1A mutation indicates that the genetic basis among patients with `TRAPS-like` features is heterogeneous.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6645.RAQF6aJVJxXsrFGx3dxMaGX93rYYxJNF1In58dkF-rSBc130_provenance.
- NP6649.RAe_QYcevkX3s0BiG9BofpWXmi-wo5kT_rGlVjXAk7eBI130_assertion description "[Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6649.RAe_QYcevkX3s0BiG9BofpWXmi-wo5kT_rGlVjXAk7eBI130_provenance.
- NP6651.RAd7BuQmmPVDljtMFvOa7SuKfSx4mcbpISteQHD8EIiv0130_assertion description "[Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6651.RAd7BuQmmPVDljtMFvOa7SuKfSx4mcbpISteQHD8EIiv0130_provenance.
- NP6652.RAcTk20qkCzGK_XXz601-8qoe3ZK28fmn_OscAkekTX3k130_assertion description "[Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6652.RAcTk20qkCzGK_XXz601-8qoe3ZK28fmn_OscAkekTX3k130_provenance.
- NP6653.RAZj1RS9E4fqcvcGxg5Om6oOtnpvd6gZgKLbHkfE3QNB0130_assertion description "[Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6653.RAZj1RS9E4fqcvcGxg5Om6oOtnpvd6gZgKLbHkfE3QNB0130_provenance.
- NP6655.RASd5RzazdxhKZvea2sCmmdURuyH-D0I010MxrhQNGRmE130_assertion description "[Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6655.RASd5RzazdxhKZvea2sCmmdURuyH-D0I010MxrhQNGRmE130_provenance.
- NP6660.RAc53LN2IvO5Dqv2vk9ouaPLlMCwHyqZ1-GaLNNw5S7x4130_assertion description "[Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6660.RAc53LN2IvO5Dqv2vk9ouaPLlMCwHyqZ1-GaLNNw5S7x4130_provenance.
- NP6664.RAbYsYrQ_FE_nK6e96H78iO4JIEwTUMZnkKxo9S-fsrPo130_assertion description "[Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6664.RAbYsYrQ_FE_nK6e96H78iO4JIEwTUMZnkKxo9S-fsrPo130_provenance.
- NP6667.RAdhJOyFr502WBeQ5Oy1J9vpHjtBvKvjFrYwLh3TO3xU4130_assertion description "[Novel missense mutation in cardiac troponin T gene found in Japanese patient with hypertrophic cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6667.RAdhJOyFr502WBeQ5Oy1J9vpHjtBvKvjFrYwLh3TO3xU4130_provenance.
- NP6670.RAfQaxNd65qUTQpTqNQ5x76rpqvfiBvapDjkaotaGabZ0130_assertion description "[Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6670.RAfQaxNd65qUTQpTqNQ5x76rpqvfiBvapDjkaotaGabZ0130_provenance.
- NP6673.RAehfjRtNoZcUjUekwIHx7obQOMnrczuFV18Z4UnQiX4w130_assertion description "[Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6673.RAehfjRtNoZcUjUekwIHx7obQOMnrczuFV18Z4UnQiX4w130_provenance.
- NP6688.RATjHkEVndDZGjLOgrGpDa3xLlh3hduBlEimJ3AwB1cWg130_assertion description "[The Rapp-Hodgkin syndrome results from mutations of the TP63 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6688.RATjHkEVndDZGjLOgrGpDa3xLlh3hduBlEimJ3AwB1cWg130_provenance.
- NP6694.RAacGrXIdvfQJrnQewaB2lfxF9zauxrAOKK1PGwNLAC4w130_assertion description "[Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6694.RAacGrXIdvfQJrnQewaB2lfxF9zauxrAOKK1PGwNLAC4w130_provenance.
- NP6695.RAUQ7oDDSEhxuSI-kUVSw86JW_RicwcvK5oeAQEaV_uZg130_assertion description "[Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6695.RAUQ7oDDSEhxuSI-kUVSw86JW_RicwcvK5oeAQEaV_uZg130_provenance.
- NP6696.RAdfn6OfrtXKgfr9NkoLHc2VCvMrwWODx_N3PGmOPKWqI130_assertion description "[Functional properties of missense variants of human tryptophan hydroxylase 2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6696.RAdfn6OfrtXKgfr9NkoLHc2VCvMrwWODx_N3PGmOPKWqI130_provenance.
- NP6708.RASdKaFN3VBwevbCMgFy5q_XnqRHYWsmqoZLLGpZvhc6E130_assertion description "[Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6708.RASdKaFN3VBwevbCMgFy5q_XnqRHYWsmqoZLLGpZvhc6E130_provenance.
- NP6713.RAb2IZEEjnDBRruTIMF_UYsz4UKGkcrVJGUfVrrT94Vj4130_assertion description "[Two novel mutations in the thyroid peroxidase gene with goitrous hypothyroidism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6713.RAb2IZEEjnDBRruTIMF_UYsz4UKGkcrVJGUfVrrT94Vj4130_provenance.
- NP6724.RATVDloUSAP2Wp-o12ato5H61VspKuD7FK7Uys8Owo04c130_assertion description "[Elevated levels of TPP-I activity in CHO cells expressing Q100R CLN2 and background activity in CHO cells expressing G389E CLN2 clearly defines G389E as a pathogenic mutation and indicates that Q100R is a polymorphism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6724.RATVDloUSAP2Wp-o12ato5H61VspKuD7FK7Uys8Owo04c130_provenance.
- NP6725.RAdQTHpIidmFLNUgfCLZlccbPP6Qk1a3uEw4utbLjG8xQ130_assertion description "[Eight novel CLN7/MFSD8 mutations and seven novel mutations in the CLN1/PPT1, CLN2/TPP1, CLN5, CLN6 and CLN8 genes were identified in patients of various ethnic origins.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6725.RAdQTHpIidmFLNUgfCLZlccbPP6Qk1a3uEw4utbLjG8xQ130_provenance.
- NP6732.RAYZdiFLkbIg8zasZaoz0TtOK7kLd6Zdoka_5-CKJTynE130_assertion description "[Here we complete the molecular pathology of PLOSL by identifying TREM2 as the second PLOSL gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6732.RAYZdiFLkbIg8zasZaoz0TtOK7kLd6Zdoka_5-CKJTynE130_provenance.
- NP6737.RAQ9f4BNUnddICZmSHSk1xgG-sydBrptS-axIiDX9BYaE130_assertion description "[Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6737.RAQ9f4BNUnddICZmSHSk1xgG-sydBrptS-axIiDX9BYaE130_provenance.
- NP6757.RAViK2ON0KuNqVoF-Yd9OEsxvHsRqmFl63fn-H91lCNlY130_assertion description "[Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6757.RAViK2ON0KuNqVoF-Yd9OEsxvHsRqmFl63fn-H91lCNlY130_provenance.
- NP6778.RAXJvjIUhqtn5k8zcYX1VEt2xn8uCQowlH0xf52yGLREo130_assertion description "[Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6778.RAXJvjIUhqtn5k8zcYX1VEt2xn8uCQowlH0xf52yGLREo130_provenance.
- NP6780.RAdic-tgS21MOoJyeqFvjNsrSUi6Jc0ZqJaDlQt0LsvAA130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6780.RAdic-tgS21MOoJyeqFvjNsrSUi6Jc0ZqJaDlQt0LsvAA130_provenance.
- NP6782.RAU0vNlDAblwuxNSegsjUYEB9C38ycmSpWb7rrdKef5YY130_assertion description "[Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6782.RAU0vNlDAblwuxNSegsjUYEB9C38ycmSpWb7rrdKef5YY130_provenance.
- NP6784.RAeXVUJTTHlTEk2vwk6Neyz-6TgmasI44FPnqhCxDrJ50130_assertion description "[Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6784.RAeXVUJTTHlTEk2vwk6Neyz-6TgmasI44FPnqhCxDrJ50130_provenance.
- NP6785.RAWOW5dEfZQfaEwecLkgl7-xpboXVgZeXeTYWG1hqnKoc130_assertion description "[Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6785.RAWOW5dEfZQfaEwecLkgl7-xpboXVgZeXeTYWG1hqnKoc130_provenance.
- NP6787.RAaaRNvgVs31JfH1nDpg8C0E4zvDvB8Z-dLaPLNpcByH8130_assertion description "[Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6787.RAaaRNvgVs31JfH1nDpg8C0E4zvDvB8Z-dLaPLNpcByH8130_provenance.
- NP6792.RAWEk2ZGE1wOBeTt8ZWn5lgq7zrICYcfc6HTs3QblXJ80130_assertion description "[tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6792.RAWEk2ZGE1wOBeTt8ZWn5lgq7zrICYcfc6HTs3QblXJ80130_provenance.
- NP6798.RAQ7LWAw-msldkeAPCKEI7Y3r4MlQo1REon0HWBIS-W5A130_assertion description "[Activating thyrotropin receptor mutations are present in nonadenomatous hyperfunctioning nodules of toxic or autonomous multinodular goiter.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6798.RAQ7LWAw-msldkeAPCKEI7Y3r4MlQo1REon0HWBIS-W5A130_provenance.
- NP6799.RAaUSwXJysBf-y80cM7Ji1meuo5Pf2ha_gsbw_iMXhLbg130_assertion description "[The first activating TSH receptor mutation in transmembrane domain 1 identified in a family with nonautoimmune hyperthyroidism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6799.RAaUSwXJysBf-y80cM7Ji1meuo5Pf2ha_gsbw_iMXhLbg130_provenance.
- NP6800.RAav4gatVDp5bCqSsbErK-dZh_mrQtysiz9pkTTS_6Ymw130_assertion description "[Oncogenic mutations in the thyrotropin receptor of autonomously functioning thyroid nodules in the Japanese population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6800.RAav4gatVDp5bCqSsbErK-dZh_mrQtysiz9pkTTS_6Ymw130_provenance.
- NP6803.RAap7hw6D7zhvyRYcACD1cqeIkAnU-rVGUhehc90xE58I130_assertion description "[Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6803.RAap7hw6D7zhvyRYcACD1cqeIkAnU-rVGUhehc90xE58I130_provenance.