research A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
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research State-dependent signaling by Cav1.2 regulates hair follicle stem cell function
Cav1.2 affects hair growth and could be a target for hair loss treatments.
research Endocrinology and auxology of sibships with non-classical congenital adrenal hyperplasia.
Siblings with signs of virilization should be tested for non-classical congenital adrenal hyperplasia, which does not affect adult height but may impact fertility and well-being if untreated.
research MITF E318K naevus phenotype: the modifying role of MC1R Red Hair Variants
research FOXN 1 Duplication and Congenital Hypertrichosis
FOXN1 duplication can cause excessive hair growth.
research Collagen triple helix repeat containing-1 promotes functional recovery of sweat glands by inducing adjacent microvascular network reconstruction in vivo
CTHRC1 helps sweat glands recover by rebuilding nearby blood vessels.
research 409 ANDROGEN RECEPTOR GENE POLYMORPHISM (SNP RS6152) – ITS RELATIONSHIP TO ANDROGEN-SENSITIVE GENES EXPRESSION IN BENIGN PROSTATIC HYPERPLASIA, CARCINOMA OF THE PROSTATE AND ANDROGENETIC ALOPECIA
Gene variation affects prostate issues and hair loss.
research Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions
Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
research Gene expression patterns during palatal shelf fusion
Several genes, including Hox-7A, Stra6, and Lim-1, are involved in normal palate formation.
research A Novel Human Type II Cytokeratin, K6hf, Specifically Expressed in the Companion Layer of the Hair Follicle
K6hf is a unique protein found only in a specific layer of hair follicles.
research Lung-Targeted Delivery of Cepharanthine by an Erythrocyte-Anchoring Strategy for the Treatment of Acute Lung Injury
Erythrocyte-anchored nanoparticles improved Cepharanthine delivery and effectiveness for treating acute lung injury.
research Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14
A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
research Regulation of epidermal proliferation and hair follicle cycling by synthetic photostable retinoid EC23
The synthetic retinoid EC23 thickens skin and promotes hair growth more effectively and with a lower dose than natural retinoids.
research Identification of two novel clusters of ultrahigh-sulfur keratin-associated protein genes on human chromosome 11
Two new gene clusters important for hair formation were found on human chromosome 11.
research Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis
Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
research A Cell Membrane-Level Approach to Cicatricial Alopecia Management: Is Caveolin-1 a Viable Therapeutic Target in Frontal Fibrosing Alopecia?
Targeting the protein Caveolin-1 might help treat a type of scarring hair loss called Frontal Fibrosing Alopecia.
research 474 Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility
Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
research The targeted overexpression of a Claudin mutant in the epidermis of transgenic mice elicits striking epidermal and hair follicle abnormalities
research Untreated Congenital Adrenal Hyperplasia Presenting with Severe Androgenic Alopecia
Untreated Congenital Adrenal Hyperplasia can cause severe hair loss due to high androgen levels.
research Identification of drug-specific public TCR driving severe cutaneous adverse reactions
Researchers found a specific immune receptor in patients that causes severe skin reactions to a drug.
research Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene
A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.
research Non-classical Congenital Adrenal Hyperplasia Presenting With Severe Androgenic Alopecia: A Case Report
Early diagnosis and treatment of NCCAH can improve symptoms and fertility.
research THE ENTRY OF CA45 INTO THE SKIN AND OTHER SOFT TISSUES OF THE RAT: AN AUTORADIOGRAPHIC AND SPODOGRAPHIC STUDY
Ca 45 mainly enters rat skin and eye through biosynthesis and may be adsorbed in cartilage and glands.
research Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient
A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.
research Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix
The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
research Wnt target gene Ascl4 is dispensable for skin appendage development
The gene Ascl4 is not necessary for the development of hair, teeth, or mammary glands.
research Measuring steroids in hair opens up possibilities to identify congenital adrenal hyperplasia in developing countries
Hair steroid measurement is an effective method to diagnose and monitor CAH in developing countries.
research 328 The transcription factor CEBPB is a novel hub gene and multi-functional disease driver in Psoriatic skin inflammation
ILC1-like cells can cause alopecia areata by themselves.
research Expression and tissue distribution analysis of Angiotensin II in sheep (Ovis aries) skins associated with white and black coat colors
Angiotensin II is found at higher levels in black sheep skin and may influence coat color.
research Riboflavin-responsive glutaryl CoA dehydrogenase deficiency
Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.