research Two Siblings With a Novel Nonsense Mutation, p.R50X, in the Vitamin D Receptor Gene
A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
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research Identification of a Novel Heterozygous Mutation in the First Japanese Case of Marie Unna Hereditary Hypotrichosis
Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
research Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia
Mutations in the KRT85 gene cause hair and nail problems.
research Overexpression of Activin A in the Skin of Transgenic Mice Reveals New Activities in Epidermal Morphogenesis, Dermal Fibrosis, and Wound Repair
Overexpression of activin A in mice skin causes skin thickening, fibrosis, and improved wound healing.
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 Compartmentalized Organization: A Common and Required Feature of Stem Cell Niches?
Compartmentalized organization might be crucial for stem cells to effectively respond to growth or injury.
research TRPS1 Mutation Associated with Trichorhinophalangeal Syndrome Type 1 with 15 Supernumerary Teeth, Hypoplastic Mandibular Condyles with Slender Condylar Necks and Unique Hair Morphology
A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.
research Modulation of Genomic and Postgenomic Alterations in Non-Cancer Diseases and Critical Periods of Life
N-acetyl-L-cysteine (NAC) can prevent DNA damage and protect cells from harm.
research Genetic Ablation of the CDP/Cux Protein C Terminus Results in Hair Cycle Defects and Reduced Male Fertility
Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
research Activin Controls Skin Morphogenesis and Wound Repair Predominantly via Stromal Cells and in a Concentration-Dependent Manner via Keratinocytes
Activin helps skin growth and healing mainly through stromal cells and affects keratinocytes based on its amount.
research Disease Causing Homozygous Variants in the Human Hairless Gene
New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
research Expanding the Phenotype: Four New Cases and Hope for Treatment in Bachmann-Bupp Syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
research A Mouse Model for the Basal Transcription and DNA Repair Syndrome Trichothiodystrophy
Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
research Opposing Impacts on Healthspan and Longevity by Limiting Dietary Selenium in Telomere Dysfunctional Mice
Low selenium levels can extend lifespan but worsen health issues.
research Breakdown of Immune Tolerance in AIRE-Deficient Rats Induces a Severe Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy–Like Autoimmune Disease
AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
research Restoration of Spermatogenesis and Male Fertility Using an Androgen Receptor Transgene
Scientists restored fertility in male mice lacking a key fertility gene by using a modified gene.
research Genetic Disorders and Defects in Vitamin D Action
Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
research Adam10 Haploinsufficiency Causes Freckle-Like Macules in Hairless Mice
A mutation in the Adam10 gene causes freckle-like spots on Hairless mice.
research The Importance of Basonuclin 2 in Adult Mice and Its Relation to Basonuclin 1
Basonuclin 2 is vital for the development of facial bones, hair follicles, and male germ cells in adult mice, and its absence can lead to dwarfism and abnormal follicles.
research Hair Cycle Control by Leptin as a New Anagen Inducer
Leptin, a hormone, is important for starting hair growth.
research CCN2 Modulates Hair Follicle Cycling in Mice
The protein CCN2 controls hair growth by affecting hair follicle formation and stem cell activity in mice.
research Mutations in the Vitamin D Receptor and Hereditary Vitamin D-Resistant Rickets
Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
research Hedgehog Signaling Reprograms Hair Follicle Niche Fibroblasts to a Hyper-Activated State
Overactivating Hedgehog signaling makes hair follicle cells in mice grow hair faster and create more follicles.
research Clinical and Molecular Genetic Studies in Hereditary Hair Loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
research Fate of Prominin-1 Expressing Dermal Papilla Cells During Homeostasis, Wound Healing, and Wnt Activation
Prominin-1 expressing cells in the dermal papilla help regulate hair follicle size and communication but don't aid in skin repair.
research EdnrB Governs Regenerative Response of Melanocyte Stem Cells by Crosstalk with Wnt Signaling
EdnrB signaling helps melanocyte stem cells regenerate and could be targeted to treat pigmentation issues.
research Alopecia Areata: A Multifactorial Autoimmune Condition
Alopecia areata is an autoimmune disease causing patchy hair loss, often with other autoimmune disorders, but its exact causes are unknown.
research Acne
Acne is a common skin condition linked to diet, hormones, and genetics, and early treatment can prevent scarring.
research Whole Genome Scan and Selection Signatures for Climate Adaptation in Yanbian Cattle
The CORT, FGF5, and CD36 genes are crucial for the cold weather adaptation of Yanbian cattle.
research Advances in the Genetic Understanding of Hypohidrotic Ectodermal Dysplasia
Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.