research ANALYSIS OF CTLA 4 GENE +49A/G AND CT60 A/G POLYMORPHISMS IN ALOPECIA AREATA PATIENTS
CT60 polymorphism might increase the risk of Alopecia Areata.
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research Ulcerative colitis and total alopecia in a mother and her son
A mother and son both had ulcerative colitis and alopecia, suggesting a genetic link in autoimmune disorders and successful treatment with cyclosporine.
research Deletion of the Developmentally Essential Gene ATR in Adult Mice Leads to Age-Related Phenotypes and Stem Cell Loss
Removing the ATR gene in adult mice causes rapid aging and stem cell loss.
research A direct link betweenPrss53, hair curvature, and skeletal dysplasia
The gene Prss53 affects hair shape and bone development in rabbits.
research Hypotrichosis congenita (KRT71 mutation) in Hereford cattle in Uruguay
A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.
research The Molecular Basis of Androgen Insensitivity
Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.
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 Localized in vivo genotypic and phenotypic correction of the albino mutation in skin by RNA-DNA oligonucleotide
research Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II
A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
research THE INSUSCEPTIBILITY OF C57 BLACK MICE TO POST-IRRADIATION LEUKEMIA, SOME UNREPORTED POST-IRRADIATION CHANGES
CXCL7 is essential for muscle repair by aiding early neutrophil infiltration.
research Identification and characterization of Birt–Hogg–Dubé associated renal carcinoma
Somatic BHD mutations are rare in Japanese renal tumors.
research Influence of Myosin Regulatory Light Chain and Myosin Light Chain Kinase on the Physiological Function of Inner Ear Hair Cells
NM2 and RLC phosphorylation are essential for normal inner ear hair cell function.
research 744 Role of Sdf1-Cxcr4 signaling in mouse appendage regeneration
Mice without the p21 gene can fully regenerate injured ears due to reduced Sdf1 increase and leukocyte recruitment, suggesting new ways to induce tissue regeneration in mammals.
research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT 10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research Muir-torre syndrome in two families in Leicestershire, United Kingdom
Recognizing minor skin lesions can help identify serious cancer syndromes.
research 876 Manipulation of stem cell divisional behavior: Selectively promoting asymmetric and symmetric keratinocyte divisions in vitro
Scientists can control how skin stem cells divide by using different treatments.
research Hutchinson-Gilford progeria syndrome - A brief introduction
Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.
research Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report
A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
research 321 Deletion of hypoxia-inducible factor prolyl 4-hydroxylase 2 in FoxD1-lineage mesenchymal cells leads to congenital truncal alopecia
Removing HIF-P4H-2 from certain skin cells in mice causes hair loss on the body but not the head.
research Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil
Cantu syndrome, which causes excessive hair growth and skin issues, is due to a mutation in the ABCC9 gene, and understanding this could help develop new treatments for hair diseases.
research Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
research Fatigue, alopecia and stomatitis among patients with breast cancer receiving cyclin-dependent kinase 4 and 6 inhibitors: a systematic review and meta-analysis
Breast cancer patients taking CDK4/6 inhibitors are more likely to experience fatigue, hair loss, and mouth sores.
research Cronkhite–Canada syndrome: from clinical features to treatment
There is no standard treatment for the rare Cronkhite–Canada syndrome, which can be fatal and lead to cancer.
research Hereditary 1,25‐Dihydroxyvitamin D–Resistant Rickets Due to an Opal Mutation Causing Premature Termination of the Vitamin D Receptor
A specific gene mutation causes vitamin D-resistant rickets and hair loss.
research Miz1 is required for hair follicle structure and hair morphogenesis
Miz1 is essential for proper hair structure and growth.
research Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia
Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
research Management of pregnancy in a carrier of the Donohue mutation
Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.
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 Complex X chromosome rearrangement associated with multiorgan autoimmunity
A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
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.