research Congenital Hair Loss Disorders: Rare, But Not Too Rare
Some hair loss disorders are caused by genetic mutations affecting hair growth.
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30-60 / 1000+ results 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 Novel Compound Heterozygous Cadherin 3 Mutations in Hypotrichosis and Juvenile Macular Dystrophy
Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
research A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia
A specific gene mutation causes congenital hair loss.
research Clinical and Genetic Findings in a Chinese Family with VDR-Associated Hereditary Vitamin D-Resistant Rickets
A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
research A Humanized Mouse Model of Hereditary 1,25-Dihydroxyvitamin D–Resistant Rickets Without Alopecia
Researchers created a mouse model of a type of rickets that does not cause hair loss.
research Prognosis and Management of Congenital Hair Shaft Disorders with Fragility—Part I
Some congenital hair disorders improve in childhood or with treatments like minoxidil and retinoids, while others like Netherton syndrome and trichothiodystrophy have a poor prognosis.
research Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm
New gene identification techniques have improved the understanding and classification of inherited hair disorders.
research Molecular Genetics of Keratinization Disorders: What's New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research Correction of Hair Shaft Defects Through Allele-Specific Silencing of Mutant Krt75
Using special RNA to target a mutant gene fixed hair problems in mice.
research Woolly Antics Between the Sheaths
Lipase H is important for hair follicle function and shaping hair fibers.
research Hairless and Wnt Signaling: Allies in Epithelial Stem Cell Differentiation
The HR protein's role as a repressor is essential for controlling hair growth.
research Ectodysplasin Research: Where to Next?
Future research on ectodysplasin should explore its role in diseases, stem cells, and evolution, and continue developing treatments for genetic disorders like hypohidrotic ectodermal dysplasia.
research EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
research Genetics of Hidradenitis Suppurativa
Hidradenitis Suppurativa has genetic links, with certain gene mutations more common in patients and a third of cases having a family history.
research TGFβ and Cancer Metastasis: An Inflammation Link
TGFβ's manipulation of inflammation and immune cells affects cancer spread, suggesting new treatment strategies and biomarkers.
research Efficient Editing of CSLD2 Orthologue by CRISPR/Cas9 Affects Cell Morphogenesis of Root Hair in Spinach
CRISPR/Cas9 editing in spinach affects root hair growth by altering specific genes.
research Keratin Disorders: From Gene to Therapy
New treatments targeting specific genes show promise for treating keratin disorders.
research Aromatase Deficiency in a Male Patient: Case Report and Literature Review
A male with aromatase deficiency improved bone health with estradiol treatment.
research A Novel Homozygous Variant in the DSP Gene Underlies the First Case of Non-Syndromic Form of Alopecia
A new gene variant in the DSP gene is linked to a unique type of hair loss.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
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 Biology and Genetics of Hair
The document concludes that understanding the genes and pathways involved in hair growth is crucial for developing treatments for hair diseases.
research Morphological Approach to Hair Disorders
Accurate clinical, histological, and genetic methods are key for understanding and treating hair disorders.
research Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses
Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.
research XEDAR Activates the Non-Canonical NF-κB Pathway
XEDAR triggers a specific signaling pathway in cells.
research Alopecia Areata in a Rhesus Monkey (Macaca Mulatta)
The monkey's hair loss was due to an autoimmune disease, not genetics.
research Dermatopathology and Molecular Genetics
Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
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.
research A Newborn With Hair Loss
The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.