research A Homozygous Frameshift Mutation in theHOXC13Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family
A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
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research Hypotrichosis with juvenile macular dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
research Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations
Researchers found 15 new genetic links to skin traits in Japanese women.
research Zebrafish Model of Hereditary Pigmentary Disorders
Zebrafish help understand genetic causes of skin pigment disorders like albinism.
research Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings
Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
research Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
New mutations in the hairless gene may cause hair loss and affect bone development.
research The genetic basis of dermatophytosis skin infection susceptibility
Genetic factors affecting skin health and body weight may increase the risk of dermatophytosis.
research Genetic Basis of Male Pattern Baldness
Male pattern baldness is largely genetic, linked to the androgen receptor gene, and may relate to certain health issues.
research Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
research Iron Screening in Alopecia Areata Patients May Catch Hereditary Hemochromatosis Early
Screening for iron levels in patients with hair loss may help find a genetic iron overload condition early.
research Recent advances in the genetics of alopecia areata
New research has found 14 genes linked to the risk of developing alopecia areata, improving understanding and treatment options.
research Novel small‐insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis
Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
research Investigating the Genetic Association of Selected Candidate Loci with Alopecia Areata Susceptibility in Jordanian Patients
No significant genetic link to alopecia areata was found in the Jordanian group.
research A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females
A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
research 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation
A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
research A Comprehensive Review of GWASs of Human Hair Traits
Genetic studies on hair traits can improve understanding of health and disease.
research Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
Mutations in the SNRPE gene cause hereditary hair loss.
research Functional Genome and Proteome Analyses of Cutaneous Autoimmune Diseases
Common gene patterns may cause skin autoimmune diseases.
research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa
PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
research Skin diseases associated with atopic dermatitis
People with atopic dermatitis are more likely to develop other skin conditions due to shared genetics and immune pathways.
research 6874 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
research A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus
A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
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.
research Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
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 New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
CARASIL can cause different symptoms even with the same genetic mutation.
research A Founder Mutation in the POMC 5′-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA
A specific genetic mutation causes POMC deficiency, leading to symptoms like weight gain and red hair.
research Genetic Disorders and Defects in Vitamin D Action
Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.