research Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
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research Significance of the polyglutamine tract polymorphism in the androgen receptor
The length of the CAG repeat in the androgen receptor gene affects the risk and progression of prostate cancer, BPH, infertility, and undermasculinized genitalia.
research Shorter CAG repeats in the androgen receptor gene may enhance hyperandrogenicity in polycystic ovary syndrome
Shorter CAG repeats in a specific gene may increase male hormone activity and symptoms like acne and excess hair in women with PCOS.
research Nonclassic congenital adrenal hyperplasia and the heterozygote carrier
Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.
research Genetics underlying phenotypic diversity in South African sheep breeds
South African sheep breeds have diverse genes affecting traits like coat color, horn development, and wool quality.
research Efficient Silencingof Androgen Receptor Gene viaUTR-Targeting siRNAs for Androgenetic Alopecia Therapy
AR-27 E-Chol siRNA can effectively promote hair regrowth for androgenetic alopecia.
research Two siblings with uncombable hair syndrome: A new pathogenic variant
Two siblings have a rare hair condition caused by a new genetic variant.
research 102 Methylation of CpG islands in promoter of type 2 5-α reductase and implications of finasteride resistance for BPH therapy
Methylation in specific gene region causes finasteride resistance in some BPH patients.
research An Autosomal Recessive Woolly Hair/Hypotrichosis Case with LIPH Mutation in a Turkish Patient
A Turkish woman has a hair condition caused by a LIPH gene mutation.
research An X-Linked Gene Involved in Androgenetic Alopecia: A Lesson to Be Learned from Adrenoleukodystrophy
Gene linked to common hair loss found, may lead to new treatments.
research Inheritance-Specific Dysregulation of Th1- and Th17-Associated Cytokines in Alopecia Areata
Certain immune-related proteins are higher in people with alopecia and their healthy relatives, hinting at a genetic link.
research Genetic Analysis of Male Pattern Baldness and the 5α-Reductase Genes
Male pattern baldness is likely caused by multiple genes, not just 5α-reductase genes.
research Deficiency of kinase suppressor of Ras1 prevents oncogenic ras signaling in mice.
Lack of KSR1 stops certain skin tumors in mice.
research Identification of Ovine KRTAP28-1 and Its Association with Wool Fibre Diameter
KRTAP28-1 gene can help breed sheep with finer wool.
research Vesicle Formation and Follicular Root Sheath Separation in Mice Homozygous for Deleterious Alleles at the Balding (bal) Locus
A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.
research Patient Profile and Treatment Characteristics of Early Ritlecitinib Initiators in the US
Ritlecitinib provides new treatment options for diverse alopecia areata patients.
research Biochemical features of primary cells from a pediatric patient with a gain-of-function ODC1 genetic mutation
A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
research Physiological and retinoid-induced proliferations of epidermis basal keratinocytes are differently controlled
Normal skin cell renewal doesn't need RAR signaling, but vitamin A-related skin thickening does.
research Janus kinase inhibition in Down syndrome: 2 cases of therapeutic benefit for alopecia areata
JAK inhibitors helped treat hair loss in two people with Down syndrome.
research Intermolecular NH2-/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 the androgen receptor, affecting its function.
research Woodhouse-Sakati Syndrome: The New Genetic Variant of DCAF17 In 2 Adult Sisters
A new genetic variant of Woodhouse-Sakati syndrome was found in two adult sisters in Russia.
research Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules
A rare gene mutation causes skin fragility and itching without affecting hair or nails.
research Causal links between 13 autoimmune diseases and graft dysfunction: A Mendelian randomization study
Alopecia areata may protect against graft dysfunction, while asthma may increase its risk.
research Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy
The patient's hair was thinner and had fewer lipids due to a genetic mutation.
research Risk of autoimmune thyroid diseases in individuals with alopecia areata: A nationwide case‐control study
People with alopecia areata may have a higher risk of thyroid diseases.
research Atopic diseases and the risk of alopecia areata among pre-teens and teenagers in Taiwan
Children with atopic diseases have a higher risk of developing alopecia areata.
research Alopecia areata and primary sclerosing cholangitis
The study concluded that patients with total hair loss and recurring hair loss had an earlier onset, longer-lasting condition, and a greater negative impact on their quality of life, with allergic conditions linked to more severe hair loss.
research 478 Mutation-specific siRNA Knockdown of GJB2 − Potential gene therapy for Keratitis-ichthyosis-deafness Syndrome
Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
research CS12192 Reverses Alopecia Areata by Selectively Targeting JAK3/JAK1/TBK1.
CS12192 effectively treats alopecia areata with better safety than current options.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.