Found: 14
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Transcriptional dysregulation in developing trigeminal sensory neurons in the LgDel mouse model of DiGeorge 22q11.2 deletion syndrome.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 9, p. 1580, doi. 10.1093/hmg/ddaa067
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- Publication type:
- Article
Mitochondrial transport mediates survival of retinal ganglion cells in affected LHON patients.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 9, p. 1454, doi. 10.1093/hmg/ddaa063
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- Publication type:
- Article
Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 9, p. 1476, doi. 10.1093/hmg/ddaa071
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- Article
Systemic therapy in an RNA toxicity mouse model with an antisense oligonucleotide therapy targeting a non-CUG sequence within the DMPK 3′UTR RNA.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 9, p. 1440, doi. 10.1093/hmg/ddaa060
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- Publication type:
- Article
Tbx5 inhibits hedgehog signaling in determination of digit identity.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 9, p. 1405, doi. 10.1093/hmg/ddz185
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- Article
De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 9, p. 1568, doi. 10.1093/hmg/ddaa081
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- Article
Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 9, p. 1537, doi. 10.1093/hmg/ddaa078
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- Publication type:
- Article
Loss of CHCHD2 and CHCHD10 activates OMA1 peptidase to disrupt mitochondrial cristae phenocopying patient mutations.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 9, p. 1547, doi. 10.1093/hmg/ddaa077
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- Publication type:
- Article
A rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 9, p. 1520, doi. 10.1093/hmg/ddaa075
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- Article
Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies.
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- Human Molecular Genetics, 2020, v. 29, n. 9, p. 1489, doi. 10.1093/hmg/ddaa073
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- Publication type:
- Article
Functions of Gtf2i and Gtf2ird1 in the developing brain: transcription, DNA binding and long-term behavioral consequences.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 9, p. 1498, doi. 10.1093/hmg/ddaa070
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- Publication type:
- Article
A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 9, p. 1417, doi. 10.1093/hmg/ddaa041
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- Publication type:
- Article
Different gene expression profiles in iPSC-derived motor neurons from ALS8 patients with variable clinical courses suggest mitigating pathways for neurodegeneration.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 9, p. 1465, doi. 10.1093/hmg/ddaa069
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- Publication type:
- Article
Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 9, p. 1426, doi. 10.1093/hmg/ddaa051
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- Publication type:
- Article