research Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix
A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.
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330-360 / 1000+ resultsresearch Conditional Knockout in Mice Reveals the Critical Roles of Ppp2ca in Epidermis Development
PP2Acα is essential for proper hair and skin development.
research [Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix].
A gene mutation causes monilethrix in a Chinese family.
research Dab2 (Disabled-2), an adaptor protein, regulates self-renewal of hair follicle stem cells
Dab2 protein is crucial for hair follicle stem cell renewal and preventing early aging.
research A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13
Monilethrix is linked to a gene cluster on chromosome 12.
research Genomic and transcriptomic landscape to decipher the genetic basis of hyperpigmentation in Lanping black-boned sheep (Ovis aries)
Two genes, ERBB4 and ROR1, may cause the unique pigmentation in Lanping black-boned sheep.
research Integrating whole-genome re-sequencing and transcriptome data to reveal the molecular mechanism of TBX5 gene regulating feathered feet in Guangxi native chickens
TBX5 gene influences feathered feet in Guangxi chickens by affecting cell growth and movement.
research Characterization of a Cluster of Human High/Ultrahigh Sulfur Keratin-associated Protein Genes Embedded in the Type I Keratin Gene Domain on Chromosome 17q12-21
A cluster of sulfur-rich hair protein genes was found on chromosome 17.
research DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research ELL Facilitates RNA Polymerase II–Mediated Transcription of Human Epidermal Proliferation Genes
ELL is crucial for gene transcription related to skin cell growth.
research Gene that causes woolly hair revealed
Mutations in the P2RY5 gene cause hereditary woolly hair.
research 666 Sebaceous gland abnormalities in fatty acyl CoA reductase 2 (Far2) null mice result in follicular dystrophy and primary cicatricial alopecia
Mutations in Far2 mice cause hair loss due to sebaceous gland issues.
research Haplotype analysis ofVEGFgene polymorphisms in polycystic ovary syndrome
Certain gene variations are found in people with polycystic ovary syndrome.
research 1458 EMT-inhibiting transcription factor Ovol2 regulates directional cell migration and proliferation in adult skin epithelia
Ovol2 is important for proper skin healing and hair growth.
research A New Clinical Variant of Hereditary Localized Alopecia: Report of a Chinese Family Mapped to Chromosome 2p25.1–2p23.2
A new type of hereditary hair loss in a Chinese family is linked to chromosome 2p25.1–2p23.2.
research Analysis of the function of ADAM17 in iRhom2 curly-bare and tylosis with esophageal cancer mutant mice
Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
research DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS
Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
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 Prostaglandin D2(PGD2); prostaglandin D2 receptor (CRTH2; GPR44; CD294); prostaglandin D2 synthase (PTGDS)
Blocking a protein called prostaglandin D2 might help treat hair loss.
research SOX2 in the Skin
SOX2 is crucial for skin cell function and hair growth, and it plays a role in skin cancer and wound healing.
research PLCD1 and Pilar Cysts
The research linked PLCD1 gene variants to the development of trichilemmal cysts.
research ER71/ETV2 Promotes Hair Regeneration from Chemotherapeutic Drug-Induced Hair Loss by Enhancing Angiogenesis
The protein ER71/ETV2 helps regrow hair after chemotherapy by improving the growth of new blood vessels.
research BRCA2 in abscission
The tumor suppressor BRCA2 helps in cell division by bringing key proteins to the area where cells split.
research The transcription elongation factors Spt4 and Spt6 promote dermal adipocyte differentiation
Spt4 and Spt6 are essential for fat cell development.
research A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
research Matriptase/MT-SP1 is required for postnatal survival, epidermal barrier function, hair follicle development, and thymic homeostasis
research Investigation of the male pattern baldness major genetic susceptibility loci AR/EDA2R and 20p11 in female pattern hair loss
AR/EDA2R gene linked to early-onset female hair loss, but 20p11 gene not involved.
research A pair of transmembrane receptors essential for the retention and pigmentation of hair
Bmpr2 and Acvr2a receptors are crucial for hair retention and color.
research The co-expression pattern of VEGFR-2 with indicators related to proliferation, apoptosis, and differentiation of anagen hair follicles
VEGFR-2 activation is likely involved in hair follicle growth, survival, and development.
research Decision letter: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.