research Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy
A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
Search
for
Sort by
Research
120-150 / 1000+ resultsresearch Butyrophilin-like 2 (BTNL2) to the Rescue: controlling autoaggressive dermal gamma delta (GD) T lymphocytes in human hair follicles (HFs) 3747
BTNL2 helps protect hair follicles from immune attacks, which could aid in treating alopecia areata.
research Detection of Type IIHair Keratin Gene in a Family with Monilethrix
A unique gene mutation was found in a family with monilethrix.
research Alex de la Iglesia: "Todos somos perversos"
Bcl-2 affects hair growth and pigmentation by controlling cell death.
research An endocrinopathy characterized by dysfunction of the pituitary-adrenal axis and alopecia universalis: supporting the entity of a triple H syndrome
Triple H syndrome exists and can vary in symptoms.
research The hairless (hr) gene is involved in the congential hypotrichosis of Valle del Belice sheep
The hr gene is linked to hair loss in Valle del Belice sheep.
research Immunofluorescence analysis of the basement membrane zone components in human anagen hair follicles
The upper hair follicle is stable, while the lower part allows movement during hair growth.
research BPS2026 – TMC1 and TMC2 are cholesterol-dependent scramblases that regulate membrane homeostasis in auditory hair cells
research Concurrent hepatitis B and autoimmune hepatitis a rare presentation of acute liver failure: a case report
A young woman recovered well from rare simultaneous Hepatitis B and autoimmune hepatitis after treatment.
research TBG096 stimulates hair regeneration through IGF-1R-mediated angiogenesis
research Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism
A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
research High-Dose Vitamin D3 and Tonsillectomy as Therapeutic Management in Henoch-Schönlein Purpura Following Hepatitis B Vaccination: A Rare Case Report.
Hepatitis B vaccination can trigger HSP, and vitamin D correction and tonsillectomy can effectively manage it.
research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
research Male pattern hair loss - rh79g
research Roles of Type 10 17beta-Hydroxysteroid Dehydrogenase in Intracrinology and Metabolism of Isoleucine and Fatty Acids
This enzyme helps metabolize fatty acids and isoleucine, and could be key in treating neurological diseases and certain cancers.
research CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
research An Adult With Hair Loss! a Rare Case of Non-Classical 3β Hydroxysteroid Dehydrogenase (3β HSD) Deficiency
A woman's hair loss and other symptoms were due to a rare hormone deficiency treatable with steroids.
research 1351 Investigation of the molecular identity of the junctional zone in human
GATA6 is important for maintaining and differentiating cells in a key area of human skin.
research New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
research Assembly of Hair Keratins in Transfected Epithelial Cells
Mouse hair keratins mHa1 and mHb4 can't form a strong network on their own in cells.
research Faculty Opinions recommendation of Mapping the molecular and structural specialization of the skin basement membrane for inter-tissue interactions.
The skin basement membrane is specialized for different tissue interactions, important for hair growth and attachment.
research The hairless gene mutated in congenital hair loss disorders encodes a novel nuclear receptor corepressor
The mutated hairless gene causes hair loss by acting as a new type of corepressor affecting thyroid hormone receptors.
research 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population.
A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
research HHV-6 reactivations in immunocompetent patients with psychiatric disorders: visual hallucinations or possible interactions?
HHV-6 reactivation may be linked to psychiatric disorders and can improve with antiviral treatment.
research Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
research KNUCKLE HYPERPIGMENTATION AS A PRELIMINARY MARKER OF VITAMIN B 12 DEFICIENCY: A CASE SERIES
Knuckle darkening can be an early sign of vitamin B12 deficiency.
research Evaluation of serum Level of Human Beta Defensin 1 patients With Alopecia Areata
Human Beta Defensin 1 levels do not predict the risk or severity of Alopecia Areata.
research Comparison of the acute ultraviolet photoresponse in congenic albino hairless C57BL /6J mice relative to outbred SKH 1 hairless mice
B6.Cg-Tyr c−2J Hr hr /J mice have a stronger delayed sunburn reaction and are good for UV research.
research Hairless Suppresses Vitamin D Receptor Transactivation in Human Keratinocytes
Hairless protein can block vitamin D activation in skin cells.
research Dihydrotestosterone-Inducible IL-6 Inhibits Elongation of Human Hair Shafts by Suppressing Matrix Cell Proliferation and Promotes Regression of Hair Follicles in Mice
IL-6 contributes to hair loss by shortening the growth phase and causing hair follicles to regress.