research An Australian Family With Macular Dystrophy Linked to Autosomal Recessive Alopecia Universalis
An Australian with rare hair loss and eye conditions had a gene linked to both, not seen together before.
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510-540 / 1000+ resultsresearch Molecular, Immunological, Enzymatic and Biochemical Studies of Coproporphyrinogen Oxidase Deficiency in a Family with Hereditary Coproporphyria
A new gene mutation causes hereditary coproporphyria with reduced enzyme activity.
research Natural Course of Epidermolysis Bullosa Simplex with Mottled Pigmentation in a Japanese Family with the p.P25L Mutation in KRT5
The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
research Identification of a Novel PNPLA1 Mutation 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 Marie Unna Hereditary Hypotrichosis: Identification of a U2HR Mutation in the Family from the Original 1925 Report
Researchers found a gene mutation responsible for a rare hair loss condition.
research Expanding Phenotype of Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis Caused by FAM111B Mutations: Report of an Additional Family Raising the Question of Cancer Predisposition and a Short Review of Early-Onset Poikiloderma
The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
research Identification of Novel Mutation in the HR Gene Responsible for Atrichia with Papular Lesions in a Pakistani Family
Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
research De Novo Mutation in the Mitochondrial tRNA Leu(UUR) Gene (A3243G) with Rapid Segregation Resulting in MELAS in the Offspring
A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
research Recent Advances in Neuropeptide-Related Omics and Gene Editing: Spotlight on NPY and Somatostatin and Their Roles in Growth and Food Intake of Fish
New tools show that in fish, NPY increases feeding and somatostatin decreases it.
research Characterization of Human Keratin-Associated Protein 1 Family Members
Mutations in hKAP1 genes may cause hereditary hair disorders.
research Clinical Course of the First Japanese Family with Marie Unna Hereditary Hypotrichosis: A Follow-Up Report
The first Japanese family with Marie Unna hereditary hypotrichosis showed hair condition improvement in a child and highlighted the risk of misdiagnosis.
research Roles of Jumonji and Jumonji Family Genes in Chromatin Regulation and Development
Jumonji genes are important for development and their mutations can cause abnormalities, especially in the heart and brain.
research Atrichia With Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review
New genetic mutations causing hair loss were found in a Chinese family.
research Next-Generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands
A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
research Marie Unna Hereditary Hypotrichosis Caused by a Novel Mutation in the Human Hairless Transcript
A new mutation in the HR gene causes hair loss in a specific family.
research Two Familial Cases of Olmsted-Like Syndrome with a G573V Mutation of the TRPV3 Gene
A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.
research A Missense Mutation in the P2RY5 Gene Leading to Autosomal Recessive Woolly Hair in a Syrian Patient
A gene mutation causes woolly hair in a Syrian patient.
research The ITGB6 Gene: Its Role in Experimental and Clinical Biology
The ITGB6 gene is important for tissue repair and hair growth, and mutations can lead to enamel defects and other health issues.
research Atrichia With Papular Lesions Resulting From a Novel Insertion Mutation in the Human Hairless Gene
Researchers found a new mutation causing total hair loss from birth.
research Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum
Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
research Mutation in 5′ Upstream Region of GCHI Gene Causes Familial Dopa-Responsive Dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
research Atrichia with Papular Lesions in a Taiwanese Patient Without Hairless (HR) Gene Mutation
A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
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 Alymphoid Cystic Thymic Dysgenesis - FOXN1 Gene Mutation: A Rare Case Report of Two Siblings
Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
research Association Between IL16 Gene Polymorphisms and Susceptibility to Alopecia Areata in the Korean Population
IL16 gene variations may affect the risk of alopecia areata in Koreans.
research Androgenetic Alopecia in Heterozygous Carriers of a Mutation in the Human Hairless Gene
Mutation in hairless gene may increase hair loss risk.
research Disease Causing Homozygous Variants in the Human Hairless Gene
New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
research Androgenetic Alopecia in Heterozygous Carriers of a Mutation in the Human Hairless Gene
Mutation in hairless gene may increase hair loss risk.
research Association Between Angiotensin-Converting Enzyme Gene Insertion Deletion Polymorphism and Androgenetic Alopecia Susceptibility Among Egyptian Patients: A Preliminary Case-Controlled Study
Certain gene variations may increase the risk of hair loss in Egyptians.
research Novel Variant in WNT10A Caused Short Anagen Hair Syndrome in a Chinese Pedigree
A new change in the WNT10A gene caused a condition leading to short hair growth in a Chinese family.