Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy.
about
Sequence variation in the androgen receptor gene is not a common determinant of male sexual orientationMolecular cloning of a full-length cDNA for dentatorubral-pallidoluysian atrophy and regional expressions of the expanded alleles in the CNSAndrogen-dependent pathology demonstrates myopathic contribution to the Kennedy disease phenotype in a mouse knock-in modelJapanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1Pathogenic mechanisms and therapeutic strategies in spinobulbar muscular atrophyDentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12pSpinal and bulbar muscular atrophy: pathogenesis and clinical managementHAP1 can sequester a subset of TBP in cytoplasmic inclusions via specific interaction with the conserved TBP(CORE).CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination.Dynamic mutations on the move.Gametic but not somatic instability of CAG repeat length in Huntington's disease.Assessing function and endurance in adults with spinal and bulbar muscular atrophy: validity of the adult myopathy assessment tool.Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset.Androgen receptor mutation in Kennedy's diseaseRelations between genotype and phenotype in German patients with the Machado-Joseph disease mutationCorrelation of clinical and molecular features in spinal bulbar muscular atrophy.Animal models of Kennedy disease.Androgen receptor and Kennedy disease/spinal bulbar muscular atrophyTriplet repeat expansion in neuromuscular disease.Polyglutamine-expanded androgen receptor interferes with TFEB to elicit autophagy defects in SBMA.The androgen receptor gene and its influence on the development and progression of prostate cancer.The CAG repeat polymorphism in the androgen receptor gene modifies the risk for hypospadias in Caucasians.The Nature, Extent, and Consequences of Genetic Variation in the opa Repeats of Notch in Drosophila.Spinal and Bulbar Muscular Atrophy.Abundant contribution of short tandem repeats to gene expression variation in humans.Pathogenesis and molecular targeted therapy of spinal and bulbar muscular atrophy (SBMA).Insulinlike growth factor (IGF)-1 administration ameliorates disease manifestations in a mouse model of spinal and bulbar muscular atrophyClinical features of spinal and bulbar muscular atrophy.The length and location of CAG trinucleotide repeats in the androgen receptor N-terminal domain affect transactivation function.The androgen receptor: structure, mutations, and antiandrogens.The likelihood of being affected with Huntington disease by a particular age, for a specific CAG sizeGlutamine repeats as polar zippers: their possible role in inherited neurodegenerative diseases.Correlation between CAG repeat length and clinical features in Machado-Joseph diseaseAnticipation and instability of IT-15 (CAG)n repeats in parent-offspring pairs with Huntington disease.Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus.Nonneural nuclear inclusions of androgen receptor protein in spinal and bulbar muscular atrophy.Kennedy's disease: pathogenesis and clinical approaches.Neurogenic and myogenic contributions to hereditary motor neuron disease.Polar zippers: their role in human disease.Family, twin, adoption, and molecular genetic studies of juvenile bipolar disorder.
P2860
Q24670573-715AF35A-7280-4164-9234-80D71781D2FAQ24671945-10AEC21C-C3C5-4B5F-8503-7239A0BCC56EQ24673304-E1333DC2-7D2A-46D1-AE5F-5DEDAFF6077AQ24678584-0A18E2AC-7887-4A07-8D5B-282414E67804Q27007098-67E3DAF8-D19F-4963-BEC7-3AD1A5EBE37FQ28250966-ECC5D1BE-132B-40B8-A196-421149415FEAQ30612908-5CECC62F-5849-40DF-B67E-1D5BEFF4651BQ33299019-A7ECB84C-F026-49F8-BAE2-E8E9A70059BBQ33384414-D72F25F1-340A-4C47-A919-A9CE3B529C9AQ33596046-9E0E7853-AE86-4413-B297-2EB3F737817DQ33596051-AE361653-E6D5-4A51-8F60-7066EA11B025Q33634876-B53121C4-BBD9-40F4-A858-1969C4152C34Q33674159-D18951F5-5854-4441-B9ED-7FF2123E3689Q33703924-E3961925-ACBA-4C92-B837-292DC98E243BQ33735577-553AABB5-D2B0-47D8-8AC8-D560CCEEBA51Q33823373-198D15A3-239A-4A0B-9C3E-5F9D5D0E7CD0Q33844742-8A8EA964-1146-4907-B96F-113126988545Q33904073-92FA3AA1-5D01-401B-8145-7DFA33BA0FE7Q33936621-8CE38B3D-EEC6-4C8A-83E1-504E9FA7A286Q34270135-D71C0406-CA6C-4B55-96C1-67F78FEFF87BQ34395691-ACAB5455-0BDB-4F38-BD69-01B94CD8107BQ34483532-4D66B398-7CB7-4693-84C9-0DD59F68563BQ34493766-9BC1ABF8-2CC1-4386-9354-0F400ABB8D29Q34499899-3017A636-BC01-4E5C-BC21-8B1DC8807009Q34504259-58CAB572-AA2F-4E69-9E5B-A7B540C109B4Q34637225-CF31ECC4-65B6-4D7F-9842-2D47BB164371Q34642189-B7AE8D67-56D1-4AA7-A1C1-451B64F1F98CQ35008921-38B56B3B-6096-4040-B6B8-3BFB81726816Q35010014-60A6E607-20A9-47D6-8E29-877ABE6C0F1DQ35193278-9CDC8E27-F0F0-4AC1-94CD-5216C3E7D6CEQ35238524-362D2C11-FDA7-4523-84B1-934347FFC47BQ35442097-1C245C58-FBDE-4BB8-84D8-C16E2FF35023Q35643559-1D416AFA-7803-4788-9D72-5B4DC3133014Q35643575-7C4DB69B-F0E5-420E-84A0-F19308E52F17Q35644427-19035614-FC3F-4B0C-AE7F-A96C7009DBDEQ35753336-28F8A56D-7E68-4D21-924E-283C8BA1B90FQ35777504-AA49AFB4-0B43-41AD-9041-419A367320BCQ36013982-913174C4-024B-4057-A600-FDA407AD1170Q36278332-9DCE102F-F112-45F3-917F-B7447E1A9A54Q36364804-03FD33D7-9825-49AA-B053-9466C90F5238
P2860
Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy.
description
1992 nî lūn-bûn
@nan
1992 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Meiotic stability and genotype ...... l and bulbar muscular atrophy.
@ast
Meiotic stability and genotype ...... l and bulbar muscular atrophy.
@en
Meiotic stability and genotype ...... l and bulbar muscular atrophy.
@nl
type
label
Meiotic stability and genotype ...... l and bulbar muscular atrophy.
@ast
Meiotic stability and genotype ...... l and bulbar muscular atrophy.
@en
Meiotic stability and genotype ...... l and bulbar muscular atrophy.
@nl
prefLabel
Meiotic stability and genotype ...... l and bulbar muscular atrophy.
@ast
Meiotic stability and genotype ...... l and bulbar muscular atrophy.
@en
Meiotic stability and genotype ...... l and bulbar muscular atrophy.
@nl
P2093
P2860
P356
P1433
P1476
Meiotic stability and genotype ...... l and bulbar muscular atrophy.
@en
P2093
Fischbeck KH
Harding AE
Hausmanowa-Petrusewicz I
La Spada AR
P2860
P2888
P304
P356
10.1038/NG1292-301
P407
P577
1992-12-01T00:00:00Z