Works matching IS 09646906 AND DT 2020 AND VI 29 AND IP 18
Results: 15
FKBP8 variants are risk factors for spina bifida.
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- Human Molecular Genetics, 2020, v. 29, n. 18, p. 3132, doi. 10.1093/hmg/ddaa211
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- Article
Shorter telomere length, higher telomerase activity in association with tankyrase gene polymorphism contribute to high-altitude pulmonary edema.
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- Human Molecular Genetics, 2020, v. 29, n. 18, p. 3094, doi. 10.1093/hmg/ddaa205
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- Article
Aberrant early growth of individual trigeminal sensory and motor axons in a series of mouse genetic models of 22q11.2 deletion syndrome.
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- Human Molecular Genetics, 2020, v. 29, n. 18, p. 3081, doi. 10.1093/hmg/ddaa199
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- Article
Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits.
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- Human Molecular Genetics, 2020, v. 29, n. 18, p. 3054, doi. 10.1093/hmg/ddaa198
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- Article
Loss of Anks6 leads to YAP deficiency and liver abnormalities.
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- Human Molecular Genetics, 2020, v. 29, n. 18, p. 3064, doi. 10.1093/hmg/ddaa197
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- Article
Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington's disease knock-in mice is blocked by Mlh1 knock-out.
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- Human Molecular Genetics, 2020, v. 29, n. 18, p. 3044, doi. 10.1093/hmg/ddaa196
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- Article
Novel TONSL variants cause SPONASTRIME dysplasia and associate with spontaneous chromosome breaks, defective cell proliferation and apoptosis.
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- Human Molecular Genetics, 2020, v. 29, n. 18, p. 3122, doi. 10.1093/hmg/ddaa195
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- Article
Conserved UBE3A subcellular distribution between human and mice is facilitated by non-homologous isoforms.
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- Human Molecular Genetics, 2020, v. 29, n. 18, p. 3032, doi. 10.1093/hmg/ddaa194
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- Article
Abundance and localization of human UBE3A protein isoforms.
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- Human Molecular Genetics, 2020, v. 29, n. 18, p. 3021, doi. 10.1093/hmg/ddaa191
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- Article
Integrative analysis of scRNA-seq and GWAS data pinpoints periportal hepatocytes as the relevant liver cell types for blood lipids.
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- Human Molecular Genetics, 2020, v. 29, n. 18, p. 3145, doi. 10.1093/hmg/ddaa188
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Genetics and geography of leukocyte telomere length in sub-Saharan Africans.
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- Human Molecular Genetics, 2020, v. 29, n. 18, p. 3014, doi. 10.1093/hmg/ddaa187
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- Article
The amino acid transporter Slc7a5 regulates the mTOR pathway and is required for granule cell development.
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- Human Molecular Genetics, 2020, v. 29, n. 18, p. 3003, doi. 10.1093/hmg/ddaa186
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- Article
The mechanistic role of alpha-synuclein in the nucleus: impaired nuclear function caused by familial Parkinson's disease SNCA mutations.
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- Human Molecular Genetics, 2020, v. 29, n. 18, p. 3107, doi. 10.1093/hmg/ddaa183
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- Article
SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization.
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- Human Molecular Genetics, 2020, v. 29, n. 18, p. 2989, doi. 10.1093/hmg/ddaa166
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- Article
Genome-wide association study of corneal biomechanical properties identifies over 200 loci providing insight into the genetic etiology of ocular diseases.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 18, p. 3154, doi. 10.1093/hmg/ddaa155
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- Article