research Gene Detection in a Family With Monilethrix and Observation of the Treatment Effect With 5% Topical Minoxidil
5% topical minoxidil improves hair density and quality in monilethrix patients.
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research A New Mutation Resulting in the Truncation of the TRAF6-Interacting Domain of XEDAR: A Possible Novel Cause of Hypohidrotic Ectodermal Dysplasia
A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
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 Successful Topical Minoxidil Treatment for Hair Density and Length in Trichorhinophalangeal Syndrome Type 1
Minoxidil improved hair growth in a child with a rare genetic disorder.
research A Brazilian Case of IFAP Syndrome With Severe Congenital Ichthyosis and Limb Malformations Caused by a Rare Variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
research Rapamycin But Not Acarbose Decreases Age-Related Loss of Outer Hair Cells in the Mouse Cochlea
Rapamycin reduces age-related hearing cell loss in mice, but acarbose does not.
research Association of Rs231775 Genetic Variant of Cytotoxic T-Lymphocyte Associated Protein 4 with Alopecia Areata Disease in Males: A Case-Control Study
The rs231775 genetic variant is linked to a higher risk and severity of Alopecia Areata in males.
research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A 32-month-old Caucasian female was identified with a heterozygous de novo nonsense mutation in the ODC1 gene, leading to a new pediatric disorder characterized by developmental delay, alopecia, and other symptoms such as macrosomia and macrocephaly. This mutation resulted in elevated ODC protein and polyamine levels in red blood cells. The case confirmed similar symptoms observed in a transgenic ODC1 mouse model. The mutation was identified through whole-exome sequencing and confirmed by Sanger sequencing. The patient might benefit from treatment with α-difluoromethylornithine, an FDA-approved drug.
research A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
research A Variant of the Glucocorticoid Receptor Gene Is Not Associated with Adrenal Androgen Excess in Women with Polycystic Ovary Syndrome
The N363S gene variant does not cause higher adrenal androgen levels in women with polycystic ovary syndrome.
research Variant 1859G→A (Arg620Gln) of the Hairless Gene: Absence of Association with Papular Atrichia or Androgenetic Alopecia
Haplogroup X found in Altaian population supports Amerindian origin.
research MC4R Variants rs12970134 and rs17782313 Are Associated with Obese Polycystic Ovary Syndrome Patients in the Western Region of Saudi Arabia
Certain MC4R gene variants are linked to higher BMI in obese women with PCOS but do not cause PCOS.
research Hyperandrogenism in Polycystic Ovarian Syndrome and Role of CYP Gene Variants: A Review
Certain gene variants may contribute to high androgen levels in women with polycystic ovary syndrome.
research An Incompletely Penetrant Novel MAFB (p.Ser56Phe) Variant in Autosomal Dominant Multicentric Carpotarsal Osteolysis Syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research Androgenetic Alopecia in Heterozygous Carriers of a Mutation in the Human Hairless Gene
Mutation in hairless gene may increase hair loss risk.
research Androgenetic Alopecia in Heterozygous Carriers of a Mutation in the Human Hairless Gene
Mutation in hairless gene may increase hair loss risk.
research OsUEV1B, a Ubc Enzyme Variant Protein, Is Required for Phosphate Homeostasis in Rice
OsUEV1B protein is essential for controlling phosphate levels in rice.
research The L412F Variant of Toll-Like Receptor 3 Is Associated with Cutaneous Candidiasis, Increased Susceptibility to Cytomegalovirus, and Autoimmunity
The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.
research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
research Incidence of Adverse Cutaneous Drug Reactions in a Mexican Sample: An Exploratory Study on Their Association to Tumor Necrosis Factor Alpha TNF2 Allele
Mexican patients had a lower incidence of skin reactions to drugs and no significant link between these reactions and the TNF2 gene variant.
research Association of Myotonic Dystrophy with Autoimmune Endocrinopathies and Thyroid Carcinoma
A patient with myotonic dystrophy had several autoimmune disorders and thyroid cancer, suggesting a possible link between these conditions.
research Novel Splice Site Mutation in the LIPH Gene in a Patient with Autosomal Recessive Woolly Hair/Hypotrichosis: Case Report and Published Work Review
A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
research Unusual Systemic Lupus Erythematosus/Sjogren's Syndrome Phenotype in a Patient with a TNFAIP3 Gene Mutation
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
research Epstein-Barr Virus Associated with High-Grade B-Cell Lymphoma in Severe Combined Immunodeficiency
A boy with severe immune deficiency and Epstein-Barr virus died from high-grade B-cell lymphoma.
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 Oncogenic Senescence: A Multi-Functional Perspective
Cellular senescence has both cancer-blocking and cancer-promoting effects, and targeting senescent cells may improve health and lifespan.
research Case Report of Schöpf–Schulz–Passarge Syndrome Resulting from a Missense Mutation, p.Arg104Cys, in WNT10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
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 Hypotrichosis Congenita (KRT71 Mutation) in Hereford Cattle in Uruguay
A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.