research Pachyonychia congenita: Sporadic onset with mutation analysis
A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
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960-990 / 1000+ results research Resequencing Analyses Revealed Genetic Diversity and Selection Signatures during Rabbit Breeding and Improvement
Genetic analysis of rabbits identified key genes for traits like coat color, body size, and fertility.
research Polymorphisms in the promoter regions of the CXCL1 and CXCL2 genes contribute to increased risk of alopecia areata in the Korean population
Certain gene variations increase the risk of alopecia areata in Koreans.
research Functional Enhancers As Master Regulators of Tissue-Specific Gene Regulation and Cancer Development.
Enhancers and super-enhancers are key in controlling specific gene activity and can play a role in cancer development.
research Hidradenitis suppurativa and Mediterranean fever gene mutations
Hidradenitis suppurativa may be more severe in people with Mediterranean fever gene mutations.
research NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis
The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
research Table S1. Disease-dependent differences between tape-strip and bulk biopsy ssGSEA scores across hair follicle compartments
research Table S1. Disease-dependent differences between tape-strip and bulk biopsy ssGSEA scores across hair follicle compartments
research Genome-Wide Association Study of Fiber Diameter in Alpacas
Certain DNA regions in alpacas are linked to fiber diameter.
research Keratin 19: Predicted Amino Acid Sequence and Broad Tissue Distribution Suggest it Evolved from Keratinocyte Keratins.
research Molecular Aspects of Polycystic Ovarian Syndrome in Female Population in Karnataka at the Southwestern Region of India
PCOS in Karnataka is influenced by genetics, lifestyle, obesity, and diabetes.
research Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
research Hard Keratin IF and Associated Proteins
research Analysis of the sheep trichohyalin gene: potential structural and calcium-binding roles of trichohyalin in the hair follicle.
Trichohyalin in sheep hair follicles may help with structure and calcium binding.
research α-parvin is required for epidermal morphogenesis, hair follicle development and basal keratinocyte polarity
α-parvin is necessary for skin and hair growth and for the correct orientation of skin cells.
research TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology
A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.
research Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I
A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
research Virtual memory is a big hairy deal
CD8+ virtual memory T cells may cause hair loss in alopecia areata.
research Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome
A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
research Conditional expression of the ErbB2 oncogene elicits reversible hyperplasia in stratified epithelia and up-regulation of TGFα expression in transgenic mice
research Sequence Analysis of mtDNA NADH-Ubiquinone Oxidoreductase Chain 1 Gene (ND1) of the Asian Black Bear Sichuan Subspecies (Ursus thibetanus mupinensis)
The ND1 gene of the Asian black bear Sichuan subspecies is similar to other bear species.
research Identification of Potential Hub Genes in Alopecia Areata
CD8A and FOXD2-AS1 may be key for diagnosing and treating alopecia areata.
research Hypotrichosis with juvenile macular dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
research Genome-wide association study of skin complex diseases
Genetic variants linked to ten skin diseases were found, showing both immune and non-immune factors play a role.
research A Dispute Between the Cavendish and Caltech: The Emergence and Ubiquity of the α-Helix
The alpha-helix was confirmed as a key structure in proteins.
research Hair Vibrissa Follicle Morphogenesis is Linked to the Expression of Retinoic Acid Receptors α and γ Genes
Retinoic acid receptors are important for hair follicle development.
research URB expression in human dermal papilla cells
The gene URB is more active in human hair growth cells and responds to a hair-related hormone.
research Human hair keratins
research Genome Wide Differential Expression Profiles in Nevus Sebaceous Uncovered Low Expression of CDKN2AIP and Construction of a ceRNA Network
CDKN2AIP gene is less active in nevus sebaceous, affecting related RNA networks.
research Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.