research Hereditary 1,25‐Dihydroxyvitamin D–Resistant Rickets Due to an Opal Mutation Causing Premature Termination of the Vitamin D Receptor
A specific gene mutation causes vitamin D-resistant rickets and hair loss.
Search
for
Sort by
Research
900-930 / 1000+ resultsresearch Atrichia Caused by Mutations in the Vitamin D Receptor Gene is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene
Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
research Different Patterns of Lichen Planus in Three Members of One Family
Lichen Planus in siblings may be influenced by genetics and environment.
research A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12∼12.3 in a Chinese family
A new genetic area linked to a rare hair loss condition was found on chromosome 13 in a Chinese family.
research Case Report: A case of Rothmund–Thomson syndrome-like phenotype with an ANAPC1 variant of uncertain significance and observed hair improvement
The patient's hair improved after treatment, but the genetic link is unclear.
research PATHOGENESIS OF GENETIC HUMAN HAIR DISORDERS
All major hair defects involve cuticle abnormalities.
research Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing
Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
research 40 PRLR and PCCA variants associated with hair length in Brangus heifers
Certain genetic variants in PRLR and PCCA genes may lead to shorter hair in cattle, which could help with heat tolerance.
research Short anagen hair syndrome is caused by mutations in the WNT10A gene and has a genetic overlap with male pattern hair loss
Mutations in the WNT10A gene cause Short Anagen Hair syndrome and increase the risk of male pattern hair loss.
research Inherited ichthyosis: Syndromic forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome
Pilomatricomas are often linked to genetic syndromes, especially Apert syndrome, and genetic analysis is crucial for diagnosis.
research Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
research Investigation of parental socioeconomic status as a determinant of dietary habits and disease severity of sickle cell disease children
Parental socioeconomic status doesn't improve dietary habits or reduce disease severity in children with sickle cell disease.
research The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis
A specific mutation in PA-PLA1α causes abnormal hair growth.
research Association of atopic dermatitis with autoimmune diseases: A bidirectional and multivariable two-sample mendelian randomization study
Atopic dermatitis increases the risk of some autoimmune diseases.
research Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
research Murine skin-derived multipotent papillary dermal fibroblast progenitors show germline potential in vitro
Mouse skin cells can become sperm-like cells in the lab.
research Cell Polarization Defects in Early Heart Development
Defects in certain proteins cause major heart abnormalities during early development.
research PROFILE OF ALOPECIA AREATA: A QUESTIONNAIRE ANALYSIS OF PATIENT AND FAMILY
Alopecia areata often starts before age 20, is more common in women, and may have a genetic link with other autoimmune diseases.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research - Higher Prenatal Anxiety Predicts Lower Neonatal Hair Cortisol
Higher prenatal anxiety is linked to lower cortisol levels in newborns' hair.
research Developmental Genetics of Color Pattern Establishment in Cats
Gene expression, especially Dkk4, is key to cat color patterns.
research Deciphering the pathogenesis of central centrifugal cicatricial alopecia
Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.
research Association of mtDNA M/N haplogroups with systemic lupus erythematosus: a case-control study of Han Chinese women
The mtDNA N haplogroup is linked to a higher risk of late-onset lupus and specific symptoms in Han Chinese women.
research Male-Pattern Baldness in Men with X-Linked Recessive Ichthyosis
Men with X-linked recessive ichthyosis can still experience male-pattern baldness.
research Heterozygous 21‐hydroxylasedeficiency as a cause of hyperandrogenism
A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
research Development of Heritable Melanoma in Transgenic Mice
The transgene likely activated an oncogene or interrupted a tumor suppressor gene, causing melanoma in mice.
research Future Directions: Gene Polymorphism Diagnostics Relevant to Hair
research The first broad replication study of SNPs and a pilot genome‐wide association study for androgenetic alopecia in Asian populations
Two specific genetic markers increase the risk of hair loss in Asian populations.
research Fine Mapping and Identifying the Mutation Gene of snthr -1Bao ScantHair Mouse
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.