Works matching IS 09646906 AND DT 2021 AND VI 30 AND IP 3/4
Results: 15
Integration of genetically regulated gene expression and pharmacological library provides therapeutic drug candidates.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 3/4, p. 294, doi. 10.1093/hmg/ddab049
- By:
- Publication type:
- Article
Novel mutations in the WFS1 gene are associated with Wolfram syndrome and systemic inflammation.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 3/4, p. 265, doi. 10.1093/hmg/ddab040
- By:
- Publication type:
- Article
A mouse model of BBS identifies developmental and homeostatic effects of BBS5 mutation and identifies novel pituitary abnormalities.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 3/4, p. 234, doi. 10.1093/hmg/ddab039
- By:
- Publication type:
- Article
Dementia with Lewy bodies—associated ß-synuclein mutations V70M and P123H cause mutation-specific neuropathological lesions.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 3/4, p. 247, doi. 10.1093/hmg/ddab036
- By:
- Publication type:
- Article
Mosaic IL6ST variant inducing constitutive GP130 cytokine receptor signaling as a cause of neonatal onset immunodeficiency with autoinflammation and dysmorphy.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 3/4, p. 226, doi. 10.1093/hmg/ddab035
- By:
- Publication type:
- Article
Molecular basis of ciliary defects caused by compound heterozygous IFT144/WDR19 mutations found in cranioectodermal dysplasia.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 3/4, p. 213, doi. 10.1093/hmg/ddab034
- By:
- Publication type:
- Article
Genetically regulated expression underlies cellular sensitivity to chemotherapy in diverse populations.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 3/4, p. 305, doi. 10.1093/hmg/ddab029
- By:
- Publication type:
- Article
Genotype & phenotype in Lowe Syndrome: specific OCRL1 patient mutations differentially impact cellular phenotypes.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 3/4, p. 198, doi. 10.1093/hmg/ddab025
- By:
- Publication type:
- Article
APOL1 risk variants affect podocyte lipid homeostasis and energy production in focal segmental glomerulosclerosis.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 3/4, p. 182, doi. 10.1093/hmg/ddab022
- By:
- Publication type:
- Article
Differentiation of glioblastoma stem cells promoted by miR-128 or miR-302a overexpression enhances senescence-associated cytotoxicity of axitinib.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 3/4, p. 160, doi. 10.1093/hmg/ddab011
- By:
- Publication type:
- Article
Effect of DNA repair inhibitor AsiDNA on the incidence of telomere fusion in crisis.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 3/4, p. 172, doi. 10.1093/hmg/ddab008
- By:
- Publication type:
- Article
Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 3/4, p. 135, doi. 10.1093/hmg/ddaa283
- By:
- Publication type:
- Article
SNP-adjacent super enhancer network mediates enhanced osteogenic differentiation of MSCs in ankylosing spondylitis.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 3/4, p. 277, doi. 10.1093/hmg/ddaa272
- By:
- Publication type:
- Article
Loss of sarcospan exacerbates pathology in mdx mice, but does not affect utrophin amelioration of disease.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 3/4, p. 149, doi. 10.1093/hmg/ddaa264
- By:
- Publication type:
- Article
C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 3/4, p. 318, doi. 10.1093/hmg/ddaa181
- By:
- Publication type:
- Article