research Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix
A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.
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810-840 / 1000+ resultsresearch Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity
Monilethrix is linked to the type II keratin gene on chromosome 12q13.
research Identification of xenobiotics interfering with 5 α -reductase (SRD5A2) activity
MK-0773 is a moderate inhibitor of the SRD5A2 enzyme.
research Schimmelpenning Syndrome: A Neuro-Oculo-Cutaneous Disorder
Schimmelpenning Syndrome requires careful evaluation and tailored treatment for skin, eye, and developmental issues.
research Effect of Dietary Methylsulfonylmethane Supplementation on Growth Performance, Hair Quality, Fecal Microbiota, and Metabolome in Ragdoll Kittens
MSM supplementation in kittens improves hair quality and growth rate without harming their health.
research m6A Methylation Analysis Reveals Networks and Key Genes Underlying the Coarse and Fine Wool Traits in a Full-sib Merino Family
Key genes and pathways influence wool traits in Merino sheep.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research Decreased Androgen Receptor Gene Methylation in Premature Pubarche: A Novel Pathogenetic Mechanism?
Reduced AR gene methylation may cause early pubic hair growth in girls.
research Clinical features of non‐classical 21‐hydroxylase deficiency after normal newborn mass screening
Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.
research Clinical Presentation and Diagnosis of Multisystemic Eosinophilic Epitheliotropic Disease in a Miniature Donkey: A Case Report
The donkey had a severe disease affecting multiple organs and was euthanized.
research Analysis of Genome DNA Methylation at Inherited Coat Color Dilutions of Rex Rabbits
Inherited color dilution in rabbits is linked to DNA methylation changes.
research Deletion of the Sox21 gene drastically affects hair lipids
Deleting the Sox21 gene changes hair lipid composition and increases cholesterol sulfate levels.
research Mice lacking the epidermal retinol dehydrogenases SDR16C5 and SDR16C6 display accelerated hair growth and enlarged meibomian glands
Mice without certain skin enzymes have faster hair growth and bigger eye glands.
research Netherton's syndrome: A syndrome of elevated IgE and characteristic skin and hair findings
Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.
research Benign Mucous Membrane Pemphigoid
A 68-year-old woman with benign mucous membrane pemphigoid has eye, mouth, and skin issues, including thick plaques and nail changes.
research DNA Methylation as an Epigenetic Memory Keeper during Skin Development and Regeneration
DNA methylation is essential for skin and hair follicle development, and could be a target for treating skin diseases.
research First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy
New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
research Amyopathic dermatomyositis presenting as severe alopecia and prominent eyelid edema: a case report and literature review
Accurate diagnosis is crucial for effectively treating severe alopecia and related symptoms.
research Preliminary Toxicity Profile of Arotinoids SMR-2 and SMR-6 in Male B6D2F1 Mice
SMR-2 and SMR-6 are much more toxic than retinoic acid, causing severe symptoms and organ damage in mice.
research A polarizing light microscopy can be an easy and reliable diagnostic tool of congenital keratinizing disorders including Netherton syndrome
Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
research Mycophenolate Antagonizes IFN-γ-Induced Catagen-Like Changes via β-Catenin Activation in Human Dermal Papilla Cells and Hair Follicles
Mycophenolate helps reverse hair loss effects caused by IFN-γ by activating a key hair growth pathway.
research Successful Immunsuppression in Childhood Alopecia Areata
Immunosuppression therapy with methylprednisolone effectively treats childhood alopecia areata.
research Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity
research Granuloma Annulare Mimicking Alopecia Mucinosa in a Child: An Atypical Presentation
Biopsy is crucial to correctly diagnose granuloma annulare, which can mimic other conditions like alopecia mucinosa.
research Demethylation of methionine and keratin damage in human hair
Copper and iron cause keratin damage in hair by converting methionine to homocysteine.
research Overexpression of spermidine/spermine N1-acetyltransferase under the control of mouse metallothionein I promoter in transgenic mice: evidence for a striking post-transcriptional regulation of transgene expression by a polyamine analogue
Overexpressing SSAT in mice makes them highly sensitive to polyamine analogues, causing liver damage and high mortality.
research Overlooked non-motor symptoms in myasthenia gravis
Non-motor symptoms in myasthenia gravis are common and need early diagnosis for better management.
research The human promyelocytic leukemia protein is a tumor suppressor for murine skin carcinogenesis
The PML protein helps prevent skin cancer in mice.
research From gene to therapy in spinal and bulbar muscular atrophy: Are we there yet?
Effective treatments for spinal and bulbar muscular atrophy are not yet available; more research is needed.
research Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.