research Immune deficiency–related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency
A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
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research Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
research Genetic Susceptibility to Alopecia
Certain mutations in the PADI3 gene may increase the risk of developing a type of scarring hair loss common in women of African descent.
research ER-located Ca2+ ATPase ACA2 regulates Ca2+ cytoplasmic pool linked to root hair growth in Arabidopsis thaliana
ACA2 is crucial for root hair growth by controlling calcium levels in cells.
research Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in DCAF17: Report of 58 additional patients from Qatar and literature review
Woodhouse-Sakati syndrome shows varied symptoms, including hair loss and diabetes, and is common in Qatar due to a specific genetic variant.
research Simultaneous Typing of Erythrocyte Acid Phosphatase, Adenylate Kinase and Adenosine Deaminase in Human Hair Root Sheaths
Hair root sheaths can be used to accurately analyze genetic markers.
research Mutation analysis of type II hair keratin gene in a pedigree with monilethrix
A new gene mutation is linked to monilethrix in the studied family.
research Human Osteoblast-Like Cells Express Predominantly Steroid 5α-Reductase Type 1
Human bone cells mainly produce a type 1 enzyme that may help regulate bone health.
research The “Bald Mill Hill” Mutation in the Mouse Is Associated with an Abnormal, Mislocalized HR bmh Protein
The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
research Glutathione S-transferase gene polymorphism, total antioxidant status, and blood pressure changes in androgenic alopecia
Gene variations may increase oxidative stress in male pattern baldness.
research A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients
A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
research Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research DNMT1 targets SRD5A2 to induce mitochondrial homeostasis and EMT in urothelial cells of hypospadias
DNMT1 may help treat hypospadias by improving cell function and preventing unwanted cell changes.
research The association between HDAC9 gene polymorphisms and stroke risk in the Chinese population: A meta-analysis
Certain variations of the HDAC9 gene can increase or decrease stroke risk in the Chinese population.
research A Homozygous Nonsense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia
A specific gene mutation causes complete hair loss without other health issues.
research Evaluation of androgen receptor gene as a candidate gene in female androgenetic alopecia
The androgen receptor gene doesn't help identify women likely to have female pattern hair loss.
research A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy
A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
research Characterization and Chromosomal Localization of Human Hair-Specific Keratin Genes and Comparative Expression During the Hair Growth Cycle
Two specific hair keratin genes are active during hair growth and decline as hair transitions to rest.
research Genetic analysis of interleukin 18 gene polymorphisms in alopecia areata
Certain IL-18 gene variations may increase the risk of alopecia areata.
research 1424 METHYLATION AND DECREASED EXPRESSION OF 5-ALPHA REDUCTASE 2 IN HUMAN PROSATE SAMPLES: IMPLICATIONS FOR RESISTANCE TO THERAPY FOR BPH
Methylation of the 5-AR2 gene may cause resistance to Finasteride in BPH patients.
research Genetics of Alopecia
Different genes are linked to various types of hair loss.
research Androgenetic alopecia and polymorphism of the androgen receptor gene (SNP rs6152) in patients with benign prostate hyperplasia or prostate cancer
Hair loss gene linked to prostate issues.
research A new target for squamous cell skin cancer?
Prostaglandins and the enzyme AKR1C3 could play a role in skin cancer and hair loss, and further research is needed to understand these mechanisms.
research ALOPECIA AREATA PROFILING SHOWS LNCRNAS REGULATE THE SUPPRESSED EXPRESSION OF KERATIN.
Certain RNAs may help diagnose alopecia areata by affecting keratin genes.
research Intermolecular NH 2 -/Carboxyl-terminal Interactions in Androgen Receptor Dimerization Revealed by Mutations That Cause Androgen Insensitivity
Mutations at Val-889 and Arg-752 disrupt key interactions in androgen receptor dimerization.
research Two mouse mutations mapped to chromosome 11 with differing morphologies but similar progressive inflammatory alopecia
Two mouse mutations cause similar hair loss despite different skin changes.
research Gene expression of type 2 17β hydroxysteroid dehydrogenase in scalp hairs of hirsute women
Hirsute women have lower type 2 17β-HSD enzyme levels, which improve with treatment.
research ALX4-related frontonasal dysplasia sequence presenting with alopecia in a 12 year old girl
A 12-year-old girl's hair loss was linked to a rare genetic condition called ALX4-related frontonasal dysplasia.
research Adenosine A2B receptor: A pathogenic factor and a therapeutic target for sensorineural hearing loss
Blocking adenosine A2B receptor may prevent or treat hearing loss.
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.