Works matching IS 09646906 AND DT 2018 AND VI 27 AND IP 11
Results: 14
Loss-of-function mutations in FGF8 can be independent risk factors for holoprosencephaly.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 11, p. 1989, doi. 10.1093/hmg/ddy106
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- Publication type:
- Article
Genome-wide association study identifies nine novel loci for 2D:4D finger ratio, a putative retrospective biomarker of testosterone exposure in utero.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 11, p. 2025, doi. 10.1093/hmg/ddy121
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- Article
Ift172 conditional knock-out mice exhibit rapid retinal degeneration and protein trafficking defects.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 11, p. 2012, doi. 10.1093/hmg/ddy109
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- Article
Leber's hereditary optic neuropathy (LHON)-associated ND5 12338T >C mutation altered the assembly and function of complex I, apoptosis and mitophagy.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 11, p. 1999, doi. 10.1093/hmg/ddy107
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- Article
Acid ceramidase inhibition ameliorates α-synuclein accumulation upon loss of GBA1 function.
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- Human Molecular Genetics, 2018, v. 27, n. 11, p. 1972, doi. 10.1093/hmg/ddy105
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- Publication type:
- Article
Quantitative proteomics reveals neuronal ubiquitination of Rngo/Ddi1 and several proteasomal subunits by Ube3a, accounting for the complexity of Angelman syndrome.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 11, p. 1955, doi. 10.1093/hmg/ddy103
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- Article
Genetic variants in autism-related CNTNAP2 impair axonal growth of cortical neurons.
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- Human Molecular Genetics, 2018, v. 27, n. 11, p. 1941, doi. 10.1093/hmg/ddy102
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- Publication type:
- Article
SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 11, p. 1927, doi. 10.1093/hmg/ddy101
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- Article
Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 11, p. 1913, doi. 10.1093/hmg/ddy098
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- Article
Increased polyamines as protective disease modifiers in congenital muscular dystrophy.
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- Human Molecular Genetics, 2018, v. 27, n. 11, p. 1905, doi. 10.1093/hmg/ddy097
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- Article
Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.
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- Human Molecular Genetics, 2018, v. 27, n. 11, p. 1892, doi. 10.1093/hmg/ddy096
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- Article
MIR137 schizophrenia-associated locus controls synaptic function by regulating synaptogenesis, synapse maturation and synaptic transmission.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 11, p. 1879, doi. 10.1093/hmg/ddy089
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- Article
Molecular partners of hNOT/ALG3, the human counterpart of the Drosophila NOT and yeast ALG3 gene, suggest its involvement in distinct cellular processes relevant to congenital disorders of glycosylation, cancer, neurodegeneration and a variety of further pathologies
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 11, p. 1858, doi. 10.1093/hmg/ddy087
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- Article
Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 11, p. 1847, doi. 10.1093/hmg/ddy078
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- Publication type:
- Article