research Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6
Monilethrix severity varies and may be influenced by other genetic or environmental factors.
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research Cronkhite-Canada syndrome: A rare disease presenting with dermatological and gastrointestinal manifestations
A patient with Cronkhite-Canada syndrome improved with nutritional support and steroids, but early diagnosis is key due to high mortality.
research Case 3: The Hypothermic Newborn
The infant with a urea cycle disorder improved with treatment and a liver transplant.
research Polymorphisms of the genes ABCG2, SLC22A12 and XDH and their relation with hyperuricemia and hypercholesterolemia in Mexican young adults
The ABCG2 gene variant increases the risk of high uric acid and cholesterol, especially in overweight or obese young Mexican males.
research Hair follicle dystrophy in a litter of domestic cats resembling lanceolate hair mutant mice
A litter of cats had a hair condition similar to a mouse mutation, leading to hair loss and abnormal hair and skin.
research Persistent scurvy after vitamin C supplementation in a high-risk patient: a case report
Vitamin C deficiency can persist in high-risk patients despite supplementation.
research Heterozygous COL5A1 deletion in a cat with classical Ehlers–Danlos syndrome
A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
research Trichohyalin: A structural protein of hair, tongue, nail, and epidermis
research A Rare Case of Cronkhite-Canada Syndrome
Early diagnosis and nutritional support are crucial for managing Cronkhite-Canada Syndrome.
research Clinical study on the efficacy and tolerability of an oral supplement based on arginine, l-cystine, zinc and B6 vitamin (Cystiphane®) in patients with telogen effluvium
The oral supplement improved hair loss in patients with telogen effluvium.
research Histopathological Analysis on keratin2-6 g Expression in Hair Mutant Mouse Hague
Keratin2-6g is crucial for hair follicle development, with mutations causing cell degeneration and vacuolation.
research Serum Cystatin C levels in adolescent females: A comparative study between PCOS and Non-PCOS groups
Adolescent females with PCOS have higher serum cystatin C levels, indicating potential metabolic and cardiovascular issues.
research Citrullus colocynthisas the Cause of Acute Rectorrhagia
Eating Citrullus colocynthis can cause severe intestinal bleeding and damage.
research Serine-rich ultra high sulfur protein gene expression in murine hair and skin during the hair cycle
research Nε-(carboxymethyl) lysine represses hair follicle formation by inhibiting Sonic hedgehog expression in a NF-κB-independent manner
Nε-(carboxymethyl) lysine delays hair growth by blocking a key protein.
research 144 Deciphering the role of the hexosamine pathway in skin homeostasis
The hexosamine pathway helps protect skin cells from stress and may improve skin and hair health.
research A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1
A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
research Relation of Skin Polyamines to the Hairless Phenotype in Transgenic Mice Overexpressing Spermidine/Spermine N1-Acetyltransferase
Excessive putrescine causes hair loss in transgenic mice by disrupting hair follicle development.
research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research Trans glutaminase-mediated cross-linking in mammalian epidermis
research Differential Expression of Genes Encoding a Cysteine-Rich Keratin Family in the Hair Cuticle
research Mister XX
Most 46XX CAH patients have female identity, but a few identify as male and may need treatment and surgery.
research Carbobenzoxy-capped Phe-Lys(BODIPY TMR-X-acyloxymethyl ketone(QSY7)
Near-infrared probes can safely and effectively image cysteine protease activity for disease diagnosis.
research 532 Unexpected expression of hemoglobin α as an endogenous antioxidant in epidermal keratinocytes
Hemoglobin α acts as an antioxidant in skin cells, especially protecting hair follicle stem cells from UV damage.
research [The value of selenotherapy in patients with mucoviscidosis].
Selenium therapy improved health in cystic fibrosis patients with fewer side effects at a lower dose.
research Amelioration by Copper Supplementation of Mutant Gene Effects in the Crinkled Mouse
Copper supplements during pregnancy improve survival and development in mutant mice.
research Metabolomic analysis of amino acids and lipids in human hair altered by dyeing, perming and bleaching
Chemical treatments like dyeing, perming, and bleaching damage hair by altering amino acids and lipids.
research A Rare Case Report of Congenital Adrenal Hyperplasia: 46XX at Tertiary Care Centre, Visnagar, North Gujarat.
A 22-year-old woman with a rare genetic condition was successfully treated to develop normal female characteristics and regular menstruation.
research Bleeding tendency with corkscrew hair
Low vitamin C caused bleeding and corkscrew hair, resolved with vitamin C treatment.
research Abstracts from the ASA 40thAnnual Meeting
HNG may help prevent the negative effects of chemotherapy on sperm production and white blood cell counts.