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Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.
- Published in:
- 2015
- By:
- Publication type:
- journal article
SOX10-regulated promoter use defines isoform-specific gene expression in Schwann cells.
- Published in:
- BMC Genomics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12864-020-06963-7
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- Publication type:
- Article
Alanyl-tRNA Synthetase 2 (AARS2)-Related Ataxia Without Leukoencephalopathy.
- Published in:
- Cerebellum, 2020, v. 19, n. 1, p. 154, doi. 10.1007/s12311-019-01080-y
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- Publication type:
- Article
GARS‐related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1167, doi. 10.1002/ajmg.a.61544
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- Publication type:
- Article
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
- Published in:
- Nature Genetics, 2015, v. 47, n. 8, p. 926, doi. 10.1038/ng.3354
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- Publication type:
- Article
Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus.
- Published in:
- Nature Genetics, 1999, v. 23, n. 3, p. 323, doi. 10.1038/15500
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- Publication type:
- Article
SOX10 directly modulates ERBB3 transcription via an intronic neural crest enhancer.
- Published in:
- BMC Developmental Biology, 2011, v. 11, n. 1, p. 40, doi. 10.1186/1471-213X-11-40
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- Publication type:
- Article
A Rare Myelin Protein Zero (MPZ) Variant Alters Enhancer Activity In Vitro and In Vivo.
- Published in:
- PLoS ONE, 2010, v. 5, n. 12, p. 1, doi. 10.1371/journal.pone.0014346
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- Publication type:
- Article
Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation.
- Published in:
- Muscle & Nerve, 2013, v. 47, n. 6, p. 922, doi. 10.1002/mus.23743
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- Publication type:
- Article
Stringent comparative sequence analysis reveals SOX10 as a putative inhibitor of glial cell differentiation.
- Published in:
- BMC Genomics, 2016, v. 17, p. 1, doi. 10.1186/s12864-016-3167-3
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- Publication type:
- Article
Functional Analyses of Glycyl-tRNA Synthetase Mutations Suggest a Key Role for tRNA-Charging Enzymes in Peripheral Axons.
- Published in:
- Journal of Neuroscience, 2006, v. 26, n. 41, p. 10397, doi. 10.1523/JNEUROSCI.1671-06.2006
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- Publication type:
- Article
Evidence for a dominant‐negative mechanism in HARS1‐mediated peripheral neuropathy.
- Published in:
- FEBS Journal, 2021, v. 288, n. 1, p. 91, doi. 10.1111/febs.15538
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- Publication type:
- Article
A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy).
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-55875-4
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- Publication type:
- Article
Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.
- Published in:
- Brain: A Journal of Neurology, 2005, v. 128, n. 10, p. 2304
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- Publication type:
- Article
Determinants of the development of diabetes (maturity-onset diabetes of the young-3) in carriers of HNF-1alpha mutations: evidence for parent-of-origin effect.
- Published in:
- 2002
- By:
- Publication type:
- journal article
A humanized yeast model reveals dominant-negative properties of neuropathy-associated alanyl-tRNA synthetase mutations.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 13, p. 2177, doi. 10.1093/hmg/ddad054
- By:
- Publication type:
- Article
A genome-wide assessment of conserved SNP alleles reveals a panel of regulatory SNPs relevant to the peripheral nerve.
- Published in:
- BMC Genomics, 2018, v. 19, n. 1, p. 1, doi. 10.1186/s12864-018-4692-z
- By:
- Publication type:
- Article
Dominant NARS1 mutations causing axonal Charcot–Marie–Tooth disease expand NARS1-associated diseases.
- Published in:
- Brain Communications, 2024, v. 6, n. 2, p. 1, doi. 10.1093/braincomms/fcae070
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- Publication type:
- Article
Genetic approaches to the treatment of inherited neuromuscular diseases.
- Published in:
- Human Molecular Genetics, 2019, v. 28, p. R55, doi. 10.1093/hmg/ddz131
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- Publication type:
- Article
Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 4, p. 525, doi. 10.1093/hmg/ddy344
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- Publication type:
- Article
Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease.
- Published in:
- Human Molecular Genetics, 2017, v. 26, p. R114, doi. 10.1093/hmg/ddx231
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- Publication type:
- Article
SOX10 regulates an alternative promoter at the Charcot-Marie-Tooth disease locus MTMR2.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 18, p. 3925, doi. 10.1093/hmg/ddw233
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- Publication type:
- Article
Tead1 regulates the expression of Peripheral Myelin Protein 22 during Schwann cell development.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 14, p. 3055, doi. 10.1093/hmg/ddw158
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- Publication type:
- Article
Dimerization is required for GARS-mediated neurotoxicity in dominant CMT disease.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 8, p. 1528, doi. 10.1093/hmg/ddw031
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- Publication type:
- Article
Haplotype-specific modulation of a SOX10/CREB response element at the Charcot–Marie–Tooth disease type 4C locus SH3TC2.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 19, p. 5171, doi. 10.1093/hmg/ddu240
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- Publication type:
- Article
Distal enhancers upstream of the Charcot-Marie-Tooth type 1A disease gene PMP22.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 7, p. 1581, doi. 10.1093/hmg/ddr595
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- Publication type:
- Article
Hepatocyte nuclear factor-4gamma.
- Published in:
- Diabetes, 1999, v. 48, n. 10, p. 2099, doi. 10.2337/diabetes.48.10.2099
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- Publication type:
- Article
Major susceptibility locus for nephropathy in type 1 diabetes on chromosome 3q: results of novel discordant sib-pair analysis.
- Published in:
- 1998
- By:
- Publication type:
- journal article
Exclusion of the hepatocyte nuclear factor 4alpha as a candidate gene for late-onset NIDDM linked with chromosome 20q.
- Published in:
- 1998
- By:
- Publication type:
- journal article
Charcot-Marie-Tooth--Linked Mutant GARS Is Toxic to Peripheral Neurons Independent of Wild-Type GARS Levels.
- Published in:
- PLoS Genetics, 2011, v. 7, n. 12, p. 1, doi. 10.1371/journal.pgen.1002399
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- Publication type:
- Article
Identification of Neural Crest and Glial Enhancers at the Mouse Sox10 Locus through Transgenesis in Zebrafish.
- Published in:
- PLoS Genetics, 2008, v. 4, n. 9, p. 1, doi. 10.1371/journal.pgen.1000174
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- Publication type:
- Article
Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes.
- Published in:
- Human Mutation, 2022, v. 43, n. 7, p. 869, doi. 10.1002/humu.24372
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- Publication type:
- Article
Bi‐allelic mutations in HARS1 severely impair histidyl‐tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome.
- Published in:
- Human Mutation, 2020, v. 41, n. 7, p. 1232, doi. 10.1002/humu.24024
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- Publication type:
- Article
Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease.
- Published in:
- Human Mutation, 2018, v. 39, n. 6, p. 834, doi. 10.1002/humu.23424
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- Publication type:
- Article
Cover Image, Volume 39, Issue 3.
- Published in:
- Human Mutation, 2018, v. 39, n. 3, p. i, doi. 10.1002/humu.23405
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- Publication type:
- Article
Substrate interaction defects in histidyl‐tRNA synthetase linked to dominant axonal peripheral neuropathy.
- Published in:
- Human Mutation, 2018, v. 39, n. 3, p. 415, doi. 10.1002/humu.23380
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- Publication type:
- Article
Cover Image, Volume 38, Issue 10.
- Published in:
- Human Mutation, 2017, v. 38, n. 10, p. i, doi. 10.1002/humu.23317
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- Publication type:
- Article
Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation.
- Published in:
- Human Mutation, 2017, v. 38, n. 10, p. 1412, doi. 10.1002/humu.23287
- By:
- Publication type:
- Article
Impaired Function is a Common Feature of Neuropathy-Associated Glycyl-t RNA Synthetase Mutations.
- Published in:
- Human Mutation, 2014, v. 35, n. 11, p. 1363, doi. 10.1002/humu.22681
- By:
- Publication type:
- Article
A Recurrent Loss-of-Function Alanyl-tRNA Synthetase ( AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N).
- Published in:
- Human Mutation, 2014, v. 35, n. 4, p. 512, doi. 10.1002/humu.22527
- By:
- Publication type:
- Article
A Loss-of-Function Variant in the Human Histidyl-t RNA Synthetase ( HARS) Gene is Neurotoxic In Vivo.
- Published in:
- Human Mutation, 2013, v. 34, n. 1, p. 191, doi. 10.1002/humu.22210
- By:
- Publication type:
- Article
A Recurrent loss-of-function alanyl-tRNA synthetase ( AARS ) mutation in patients with charcot-marie-tooth disease type 2N (CMT2N).
- Published in:
- Human Mutation, 2012, v. 33, n. 1, p. 244, doi. 10.1002/humu.21635
- By:
- Publication type:
- Article
A missense, loss-of-function YARS1 variant in a patient with proximal-predominant motor neuropathy.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 7, p. 1, doi. 10.1101/mcs.a006246
- By:
- Publication type:
- Article
Deletion of long-range sequences at Sox10 compromises developmental expression in a mouse model of Waardenburg–Shah (WS4) syndrome.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 2, p. 259, doi. 10.1093/hmg/ddi442
- By:
- Publication type:
- Article
The Role of Nuclear-Encoded Mitochondrial tRNA Charging Enzymes in Human Inherited Disease.
- Published in:
- Genes, 2022, v. 13, n. 12, p. 2319, doi. 10.3390/genes13122319
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- Publication type:
- Article
Gpnmb is a melanoblast-expressed, MITF-dependent gene.
- Published in:
- Pigment Cell & Melanoma Research, 2009, v. 22, n. 1, p. 99, doi. 10.1111/j.1755-148X.2008.00518.x
- By:
- Publication type:
- Article
Evidence of a founder haplotype refines the X-linked Charcot–Marie-Tooth (CMTX3) locus to a 2.5 Mb region.
- Published in:
- Neurogenetics, 2008, v. 9, n. 3, p. 191, doi. 10.1007/s10048-008-0126-4
- By:
- Publication type:
- Article
A previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French family.
- Published in:
- Journal of the Peripheral Nervous System, 2024, v. 29, n. 2, p. 275, doi. 10.1111/jns.12635
- By:
- Publication type:
- Article
A recurrent GARS mutation causes distal hereditary motor neuropathy.
- Published in:
- Journal of the Peripheral Nervous System, 2019, v. 24, n. 4, p. 320, doi. 10.1111/jns.12353
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- Publication type:
- Article