research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
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research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
research Complex genetic dependencies among growth and neurological phenotypes in healthy children: Towards deciphering developmental mechanisms
Genetic factors influence growth and brain development in children.
research Clinical Snippets
A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
research 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair
Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
research GTL1 is required for a robust root hair growth response to avoid nutrient overloading
GTL1 is needed to control root hair growth and prevent problems when there are too many nutrients.
research Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta
A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
research Characterization of a 300 kbp Region of Human DNA Containing the Type II Hair Keratin Gene Domain
The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.
research Identification of dual-purpose therapeutic targets implicated in aging and glioblastoma multiforme using PandaOmics - an AI-enabled biological target discovery platform
CNGA3, GLUD1, and SIRT1 are promising targets for treating aging and glioblastoma.
research Characterization of New Members of the Human Type II Keratin Gene Family and a General Evaluation of the Keratin Gene Domain on Chromosome 12q13.13
research Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin
Progerin affects cell shape but not hair or skin in mice.
research The Tabby (Ta), Tabby-c (Tac), and Tabby-J (TaJ) Mutations, Chromosome X
Tabby mutations in mice affect hair follicle development and help study genetic mapping and certain medical conditions.
research Trans glutaminase-mediated cross-linking in mammalian epidermis
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research Beta-trace protein in chronic inflammatory demyelinating polyradiculoneuropathy and Guillain-Barré syndrome – clinical utilization and a new insight into pathophysiological mechanisms
Beta-trace protein may help diagnose and predict treatment response in certain nerve disorders.
research L-Ornithine ketoacid-transaminase assay in hair roots of homozygotes and heterozygotes for gyrate atrophy
research Analyse de la régulation du gène Hairless et identification des voies de signalisation affectées chez les mutants «bald Mill Hill».
The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.
research Gab1 and Mapk Signaling Are Essential in the Hair Cycle and Hair Follicle Stem Cell Quiescence
Gab1 protein is crucial for hair growth and stem cell renewal, and Mapk signaling helps maintain these processes.
research Detection of Type IIHair Keratin Gene in a Family with Monilethrix
A unique gene mutation was found in a family with monilethrix.
research Characterization of BMP2 gene expression in embryonic and adult Inner Mongolia Cashmere goat (Capra hircus) hair follicles
The BMP2 gene is more active in the early growth phase of Cashmere goat hair and may affect hair regeneration and textile production.
research CLED: A Calcium-Linked Protein Associated with Early Epithelial Differentiation
research Activation of the transcription factor Gli1 and the Sonic hedgehog signalling pathway in skin tumours
research An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research Frequent downregulation of DMBT1 and galectin‐3 in epithelial skin cancer
DMBT1 and galectin-3 may help suppress epithelial skin cancer.
research Increased expression of Ectodysplasin A2 Receptor EDA2R is the most remarkable and ubiquitous aging-related transcriptional hallmark
The most common sign of aging at the gene level is more Ectodysplasin A2 Receptor (EDA2R) being made.
research Janus kinase inhibition in Down syndrome: 2 cases of therapeutic benefit for alopecia areata
JAK inhibitors helped treat hair loss in two people with Down syndrome.
research Letter from Brisbane [Letters to editor]
A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
research TBG096 stimulates hair regeneration through IGF-1R-mediated angiogenesis
research Concerted gene duplications in the two keratin gene families
research Expression of a truncated form of hHb1 hair keratin in human breast carcinomas
Truncated hHb1 keratin may play a role in breast cancer cell transformation.