363 results on '"Antonellis, Anthony"'
Search Results
52. Evidence for a dominant‐negative mechanism in HARS1‐mediated peripheral neuropathy
53. Bi‐allelic mutations in HARS1 severely impair histidyl‐tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome
54. GARS‐related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment
55. Gpnmb is a melanoblast-expressed, MITF-dependent gene
56. Detection of potential GDF6 regulatory elements by multispecies sequence comparisons and identification of a skeletal joint enhancer
57. Deletion of long-range sequences at Sox10 compromises developmental expression in a mouse model of Waardenburg–Shah (WS4) syndrome
58. Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations
59. SAP Regulates T H2 Differentiation and PKC-θ-Mediated Activation of NF-κB1
60. Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish
61. Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models.
62. SAP Regulates TH2 Differentiation and PKC-θ-Mediated Activation of NF-κB1
63. Direct Interaction of Sox10 with the Promoter of Murine Dopachrome Tautomerase (Dct) and Synergistic Activation of Dct Expression with Mitf
64. Determinants of the Development of Diabetes (Maturity-Onset Diabetes of the Young-3) in Carriers of HNF-1α Mutations: Evidence for parent-of-origin effect
65. Hepatocyte Nuclear Factor-4γ: cDNA Sequence, Gene Organization, and Mutation Screening in Early-Onset Autosomal-Dominant Type 2 Diabetes
66. Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish
67. A recurrent GARS mutation causes distal hereditary motor neuropathy
68. Alanyl-tRNA Synthetase 2 (AARS2)-Related Ataxia Without Leukoencephalopathy
69. Genetic approaches to the treatment of inherited neuromuscular diseases
70. OR24-1 Structure-Function Analysis of Human OTX2 Variants Defines Required Region of C-Terminus for Pituitary, Eye, and Craniofacial Development
71. Major Susceptibility Locus for Nephropathy in Type 1 Diabetes on Chromosome 3q: Results of Novel Discordant Sib-Pair Analysis
72. Exclusion of the Hepatocyte Nuclear Factor 4 alpha as a Candidate Gene for Late-Onset NIDDM Linked With Chromosome 20q
73. A Method for Developing High-Density SNP Maps and Its Application at the Type 1 Angiotensin II Receptor (AGTR1) Locus
74. Evidence for a dominant‐negative mechanism in HARS1‐mediated peripheral neuropathy.
75. Compound Heterozygosity for Loss-of-Function GARS Variants Results in a Multi-System Developmental Syndrome that Includes Severe Growth Retardation
76. Bi-allelic IARS Mutations in a Child with Intra-Uterine Growth Retardation, Neonatal Cholestasis, and Mild Developmental Delay
77. Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease
78. Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities
79. Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease
80. Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies
81. Additional file 6: Figure S1. of Stringent comparative sequence analysis reveals SOX10 as a putative inhibitor of glial cell differentiation
82. Additional file 7: Figure S2. of Stringent comparative sequence analysis reveals SOX10 as a putative inhibitor of glial cell differentiation
83. Additional file 8: Figure S3. of Stringent comparative sequence analysis reveals SOX10 as a putative inhibitor of glial cell differentiation
84. Additional file 10: Figure S4. of Stringent comparative sequence analysis reveals SOX10 as a putative inhibitor of glial cell differentiation
85. Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect
86. Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy
87. Compound heterozygosity for loss-of-functionGARSvariants results in a multisystem developmental syndrome that includes severe growth retardation
88. Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.
89. Stringent comparative sequence analysis reveals SOX10 as a putative inhibitor of glial cell differentiation
90. SOX10 regulates an alternative promoter at the Charcot-Marie-Tooth disease locusMTMR2
91. Tead1 regulates the expression ofPeripheral Myelin Protein 22during Schwann cell development
92. A novel FGD1 mutation in a family with Aarskog–Scott syndrome and predominant features of congenital joint contractures
93. Dimerization is required for GARS-mediated neurotoxicity in dominant CMT disease
94. A Novel Mutation in MARS in a Patient with Charcot-Marie-Tooth Disease, Axonal, Type 2U with Congenital Onset
95. Polymorphisms in Protein Kinase C Β (PKC Β) Gene and Risk of Diabetic Nephropathy (DN) in Type 1 Diabetes
96. An Ugo1-like protein is associated with optic atrophy ‘plus’ disorders
97. Loss of function mutations inHARScause a spectrum of inherited peripheral neuropathies
98. Early onset epileptic encephalopathy and deficient myelination as a result of autosomal recessive mutations in the AARS gene (S22.007)
99. Mutations in BETA2/NEUROD1 Gene Responsible for the Development of Type 2 Diabetes Mellitus
100. Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations.
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.