research Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia
Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
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270-300 / 1000+ results research Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation that underlies Dun camouflage color in horses
Mutations in TBX3 cause horses to have more even hair color instead of Dun camouflage.
research Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin
Lack of cystatin M/E causes thin hair and dry skin.
research Netherton's syndrome and ichthyosis linearis circumflexa.
Netherton's syndrome may have a familial link and doesn't always include atopy.
research The mouse hairy ears mutation exhibits an extended growth (anagen) phase in hair follicles and altered Hoxc gene expression in the ears
The mouse hairy ears mutation causes longer ear hair due to changes in gene expression.
research Estrus, Ovulation, and Serum Progesterone, Estradiol, and LH Concentrations in Mares After an Increased Photoperiod During Winter
Increasing daylight to 16 hours in winter can make mares ovulate and cycle earlier.
research Clinical Snippets
A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
research Non‐thymoma‐associated exfoliative dermatitis in a European shorthair cat: A case report
A cat's skin condition was fully cured with cyclosporine A after other treatments failed.
research Multiple minute digitate hyperkeratosis
The document concludes that fexofenadine reduces inflammation in chronic hives, cholestyramine helps half of pregnant women with itchy rashes, and relaxing incisions are a good alternative in facial surgery for the elderly.
research Embryonic keratinization in vertebrates in relation to land colonization
Keratinization in embryos helped vertebrates adapt to land by forming a protective skin barrier.
research Corrigendum to “Endocrine controls of primary adult human stem cell biology: Thyroid hormones stimulate keratin 15 expression, apoptosis, and differentiation in human hair follicle epithelial stem cells in situ and in vitro” [Eur. J. Cell Biol. (2010) 769–777]
The authors clarified data overlap and corrected a figure error, apologizing for any confusion.
research ROBERTSONIAN TRANSLOCATION PATIENT WITH RECURRENT MISCARRIAGE
Robertsonian translocation can cause recurrent miscarriages.
research A new mutation resulting in the truncation of the TRAF6-interacting domain of XEDAR: a possible novel cause of hypohidrotic ectodermal dysplasia: Figure 1
A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
research Author response: Complementary evolution of coding and noncoding sequence underlies mammalian hairlessness
Hairlessness in mammals is caused by combined changes in genes and regulatory regions.
research The crest phenotype in domestic chicken is caused by a 195 bp duplication in the intron of HOXC10
A 195 bp duplication in the HOXC10 gene causes crests in domestic chickens.
research The use of cyproterone acetate/ethinyl estradiol in hyperandrogenic skin symptoms – a review
Cyproterone acetate with ethinyl estradiol is effective for treating skin symptoms related to high androgen levels, like in PCOS.
research Hypotrichosis and nail dysplasia: A novel hidrotic ectodermal dysplasia
A 3-year-old girl has a rare condition causing sparse hair and nail issues, with minimal improvement from treatment.
research Clinical Case Seminar: Postmenopausal androgen excess-challenges in diagnostic work-up and management of ovarian thecosis
The conclusion is that removing both ovaries is the best treatment for excess male hormones in postmenopausal women, with medication as another option, and managing insulin resistance is important for diagnosis and treatment.
research Sweat Hypersensitivity‐Induced Urticaria and Sebaceous Adenitis in an American Saddlebred
Sweat hypersensitivity can cause severe skin issues in horses.
research The influence of long-term treatment with cyproterone acetate or a cyproterone acetate-ethinyl oestradiol combination on androgen levels in blood of hirsute women
Both treatments reduced androgen levels and hair growth in women with hirsutism.
research Patterns of expression of trichocytic and epithelial cytokeratins in mammalian tissues
Trichocytic differentiation starts in cells with epithelial cytokeratins, transitioning to trichocytic cytokeratins in hair and gradually in nails.
research Thyrotropin-Releasing Hormone (TRH) Promotes Wound Re-Epithelialisation in Frog and Human Skin
Thyrotropin-Releasing Hormone helps heal wounds in frog and human skin.
research Omenn syndrome in a 10-month-old male with athymia and VACTERL association
A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
research iRhom2 Mutation Leads to Aberrant Hair Follicle Differentiation in Mice
A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.
research Cornification
Cornification is the process where living skin cells die to create a protective barrier, and problems with it can cause skin diseases.
research Ichthyosis Follicularis With Alopecia and Photophobia
Two boys had a rare skin condition needing to be differentiated from similar disorders, with unclear inheritance due to few cases.
research The Case ∣ Fever, rash, and positive Ehrlichia antibodies
The woman was diagnosed with systemic lupus erythematosus (SLE) after initial misdiagnosis and improved with proper treatment.
research 0885 The androgen-THY1 axis mediates sexual dimorphism in dermal adipogenesis and fibrosis
Androgens reduce THY1 in skin cells, leading to less fat, more fibrosis, and worse healing in males.
research Alopecia difusa e atrofia da tireoide associadas à deficiência de selênio e zinco em ovinos.
Selenium and zinc deficiency in sheep leads to thyroid and skin problems.
research Convergent evolution has led to the loss of claw proteins in snakes and worm lizards
Snakes and worm lizards lost claw proteins due to similar evolutionary changes.