research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
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research Prostaglandin D2 Inhibits Wound-Induced Hair Follicle Neogenesis Through the Receptor Gpr44
Prostaglandin D2 blocks new hair growth after skin injury through the Gpr44 receptor.
research Esrp1-Regulated Splicing of Arhgef11 Isoforms Is Required for Epithelial Tight Junction Integrity
The study concluded that specific proteins are necessary to maintain the structure that holds epithelial cells tightly together.
research Isolation and Characterization of a Novel Hair Follicle-Specific Gene, Hacl-1
Researchers found a new gene, hacl-1, that is active in mouse hair follicles during hair growth and may be important for hair biology.
research Mutations in the Vitamin D Receptor Gene in Four Patients with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.
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 Keratin 71 Mutations: From Water Dogs to Woolly Hair
A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.
research Increased Androgen Receptor Messenger RNA in Frontal-Parietal Hair Follicles of Women with Androgenetic Alopecia
Women with hair loss have more androgen receptors in certain hair follicles.
research Detection of a Novel Missense Mutation in Atrichia with Papular Lesions
Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
research A Mutation in the Type II Hair Keratin KRT86 Gene in a Han Family with Monilethrix
A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
research Detection of Five Substitution TPO Mutations in Polycystic Ovary Syndrome and Thyroid Hormones Disturbance Patients
Five different TPO gene mutations were found in PCOS patients with thyroid hormone issues.
research Characterization, Genomic Organization, Expression, and Function of the mEphA1 Receptor Tyrosine Kinase
mEphA1 receptor tyrosine kinase is important for skin and hair development and may play a role in certain diseases.
research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
research Novel Frameshift Mutation in TRPS1 in a Ukrainian Patient with Trichorhinophalangeal Syndrome Type I
A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
research A 10 Mb Duplication in Chromosome Band 5q31.3–5q33.1 Associated with Late-Onset Lipodystrophy, Ichthyosis, Epilepsy, and Glomerulonephritis
A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
research Genome-Wide Association Study Identifies a New Locus JMJD1C at 10q21 That May Influence Serum Androgen Levels in Men
A new gene, JMJD1C, may affect testosterone levels in men.
research Light Microscopic Hair Abnormalities in Children: Retrospective Review of 119 Cases in a 10-Year Period
Over half of the children had abnormal hair under a microscope, with many having genetic hair conditions.
research Effect of Fibroblast Growth Factor 10 and an Interacting Non-Coding RNA on Secondary Hair Follicle Dermal Papilla Cells in Cashmere Goats' Follicle Development Assessed by Whole-Transcriptome Sequencing Technology
FGF10 and non-coding RNAs are important for cashmere goat hair follicle development.
research Comparative Transcriptomic Analysis of Dermal Wound Healing Reveals De Novo Skeletal Muscle Regeneration in Acomys Cahirinus
The African spiny mouse can fully regenerate its muscle without scarring, unlike the common house mouse.
research Identification of a Novel Heterozygous Mutation in the First Japanese Case of Marie Unna Hereditary Hypotrichosis
Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
research Topical Cetirizine and Oral Vitamin D: A Valid Treatment for Hypotrichosis Caused by Ectodermal Dysplasia
Using cetirizine on the skin and taking vitamin D can help increase hair growth in children with hair loss from ectodermal dysplasia.
research MicroRNAs and Their Regulatory Interactions in the Human Hair Follicle
The research found that certain microRNAs are important for human hair growth and health.
research Androgen Action and 3D Culture Conditions Influence Dermal Papilla Cells' Inductive Properties: The Role of Wnt Agonists/Antagonists Balance
DHT reduces a cell's ability to promote hair growth, while 3D culture without DHT improves it.
research Perspectives of Kennedy's Disease
Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
research Decreased Androgen Receptor Gene Methylation in Premature Pubarche: A Novel Pathogenetic Mechanism?
Reduced AR gene methylation may cause early pubic hair growth in girls.
research Kin-Cohort Analysis of LRRK2-G2019S Penetrance in Parkinson's Disease
The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.
research Androgen Receptor Gene Polymorphism and Polycystic Ovary Syndrome
The conclusion is that androgen receptor gene polymorphism might be a marker for polycystic ovary syndrome, but more research is needed.
research Desferrioxamine Treatment of Aceruloplasminemia: Long-Term Follow-Up
Finasteride may help reduce symptoms in male Tourette syndrome patients.
research Clinical Features of Familial Lewy Body Parkinsonism Caused by α-Synuclein Triplication (Iowa Kindred) with Video Documentation
The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
research Adrenal 21-Hydroxylase Gene Mutations in Slovenian Hyperandrogenic Women: Evaluation of Corticotrophin Stimulation and HLA Polymorphisms in Screening for Carrier Status
The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.