research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
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330-360 / 1000+ resultsresearch Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research The Retarded Hair Growth Mutation in Mice Is an Allele of Ornithine Aminotransferase
The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
research Selection Signatures for Fiber Production in Commercial Species: A Review
Genomic research can help improve the quality and production of natural fibers in animals.
research Wnt/β-Catenin Signaling Stabilizes Hemidesmosomes in Keratinocytes
Wnt/β-catenin signaling is important for keeping skin cell attachment structures stable.
research Familial 1q22 Microduplication Associated With Psychiatric Disorders, Intellectual Disability, and Late-Onset Autoimmune Inflammatory Response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research Hypotrichosis With Juvenile Macular Dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
research Diagnostic Imaging in Congenital Adrenal Hyperplasia: How Does It Help?
Imaging helps detect adrenal gland issues and monitor treatment in congenital adrenal hyperplasia, and can identify tumors affecting fertility.
research Fetal Alpha 5-Reductase Val89Leu Mutation Is Associated With Late Miscarriage
A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.
research Increased Risk of Chronic Fatigue and Hair Loss Following COVID-19 in Individuals with Hypohidrotic Ectodermal Dysplasia
People with hypohidrotic ectodermal dysplasia are more likely to experience long-term fatigue and hair loss after COVID-19.
research Loss Of Dicer In Newborn Melanocytes Leads To Premature Hair Graying And Changes In Integrin Expression
Removing Dicer from pigment cells in newborn mice causes early hair graying and changes in cell migration molecules.
research Case Report: Heterozygous Mutation in HTRA1 Causing Typical Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
research Identification of the Keratin-Associated Protein 22-2 Gene in Capra Hircus and Its Association with Cashmere Traits
A new goat gene affects cashmere fiber thickness; certain variations can make the fibers coarser.
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 A Perspective on Predictive Markers of Alopecia
Certain immune molecules and stress affect hair loss, and while genes play a role, more research is needed to fully understand and treat it.
research Genetic Screening of Non-Classic CAH Females with Hyperandrogenemia Identifies a Novel CYP11B1 Gene Mutation
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
research Spermidine/Spermine-N1-Acetyltransferase: A Key Metabolic Regulator
SSAT is a key enzyme affecting cell growth and metabolism, with potential but risky use in disease treatment.
research Epidermolysis Bullosa Simplex: A Paradigm for Disorders of Tissue Fragility
Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
research Quiescent Tissue Stem Cells Evade Immune Surveillance
Inactive stem cells in hair follicles and muscles can avoid detection by the immune system.
research Impaired Wound Healing in Transgenic Mice Overexpressing the Activin Antagonist Follistatin in the Epidermis
Overexpressing follistatin in mice delays wound healing and reduces scar size.
research Estrogen and Androgen Signaling in the Pathogenesis of Benign Prostatic Hyperplasia
Hormonal interactions, especially involving DHT and estrogen, play a key role in BPH development and treatment.
research Frizzled Receptors in Development and Disease
Frizzled receptors are essential for various body development processes and maintaining certain body functions.
research The Auxin-Regulated CrRLK1L Kinase ERULUS Controls Cell Wall Composition During Root Hair Tip Growth
ERULUS controls root hair growth by regulating cell wall composition and pectin activity.
research Disturbance of the Circadian System in Shift Work and Its Health Impact
Shift work disrupts the body's natural clock, leading to health problems.
research A Subset of TREM2+ Dermal Macrophages Secretes Oncostatin M to Maintain Hair Follicle Stem Cell Quiescence and Inhibit Hair Growth
Certain immune cells in the skin release a protein that stops hair growth by keeping hair stem cells inactive.
research Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2
Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
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 Primary Follicular Dystrophy With Scarring Dermatitis in C57BL/6 Mouse Substrains Resembles Central Centrifugal Cicatricial Alopecia in Humans
Certain mouse strains develop a skin condition similar to a human hair loss disease due to genetic defects.
research Gsdma3 Mutation Causes Bulge Stem Cell Depletion and Alopecia Mediated by Skin Inflammation
A Gsdma3 mutation causes hair loss due to stem cell damage from skin inflammation.