research Gender Specificity of a Genetic Variant of Androgen Receptor and Risk of Coronary Artery Disease
A genetic variant in the androgen receptor gene increases heart disease risk in women but not in men.
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60-90 / 1000+ results research Hair Follicle-Related MicroRNA-34a Serum Expression and rs2666433A/G Variant in Patients with Alopecia: A Cross-Sectional Analysis
Higher miR-34a levels and the A variant of the MIR-34A gene are linked to increased risk and severity of alopecia areata.
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 A New Clinical Variant of Hereditary Localized Alopecia: Report of a Chinese Family Mapped to Chromosome 2p25.1–2p23.2
A new type of hereditary hair loss in a Chinese family is linked to chromosome 2p25.1–2p23.2.
research Perturbations in Fatty Acid Metabolism and Collagen Production Infer Pathogenicity of a Novel MBTPS2 Variant in Osteogenesis Imperfecta
A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
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 Linear Lichen Planus Pigmentosus of the Face with Histological Findings of Lichen Planopilaris: An Uncommon Variant of Lichen Planus
A unique case showed a rare combination of two types of lichen planus on the face.
research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
research The Glucocorticoid Resistance Syndrome: Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene
A new gene variant causes glucocorticoid resistance in a mother and son.
research Nevus Sebaceus With Novel HRAS Sequence Variant Mutation Misdiagnosed As Alopecia Areata
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
research Phenotypic Heterogeneity of Epidermolysis Bullosa Associated With the Recurrent Pathogenic Variant p.(Arg2000Trp) in Plectin
The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
research A Genome-Wide Association Study Identified a Genetic Variant Associated With Hair Thinning in Japanese Women
A genetic variant linked to hair thinning in Japanese women was found.
research A Novel Pathogenic Variant of NECTIN4 Gene in a Child With Ectodermal Dysplasia-Syndactyly Syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
research Clear Cell Variant of Eccrine Porocarcinoma of the Hand: A Case Report
A 90-year-old woman's hand lesion was a rare, aggressive skin cancer treated successfully with surgery.
research Alopecia Areata Susceptibility Variant Identified by MHC Risk Haplotype Sequencing Reproduces Symptomatic Patched Hair Loss in Mice
A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.
research Severe Thiopurine-Induced Myelotoxicity and Hair Loss in Japanese Patients with NUDT15 Gene Variant: A Retrospective Case-Control Study
Screening for the NUDT15 gene variant can prevent severe side effects from thiopurine drugs in East-Asian people.
research Postmenopausal Frontal Fibrosing Alopecia: A Frontal Variant of Lichen Planopilaris
Frontal fibrosing alopecia is a hair loss condition in postmenopausal women, similar to lichen planopilaris, with ineffective treatments.
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 Follicular Mucinous Nevus: A Possible New Variant of Mucinous Nevus
Researchers found a potential new type of skin growth called follicular mucinous nevus.
research Female Pattern Hair Loss in Men: A Distinct Clinical Variant of Androgenetic Alopecia
Men can experience female pattern hair loss, needing different treatments.
research Cicatricial Pattern Hair Loss Is Not a Variant of Lichen Planopilaris
Cicatricial pattern hair loss is likely advanced common baldness, not a type of lichen planopilaris.
research A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
research Pruritic Trichostasis Spinulosa: A Rare Variant
A rare hair follicle disorder can cause itchy, bluish-black bumps on the body.
research Bitemporal Alopecia: A Unique Pattern Variant of Alopecia
The document concludes that "hot comb alopecia" is now called "central cicatricial centrifugal alopecia" and its causes are complex.
research An Unusual Presentation of Dermatomyositis: The Type Wong Variant Revisited
A woman with dermatomyositis showed rare skin symptoms, was treated successfully, and her case suggests checking for cancer in similar patients.
research Alopecia Areata - Vitiligo Overlap Syndrome: An Emerging Clinical Variant
Alopecia areata and vitiligo can coexist, respond well to treatment, and may have a better prognosis together.
research An Unusual Presentation of Dermatomyositis: The Type Wong Variant Revisited
A woman with a rare type of dermatomyositis improved with low-dose prednisone and methotrexate.
research Post-Traumatic Erosive Dermatosis of the Scalp: A Hypergranulated Variant
Elderly men with a scalp condition healed in about 26 days using specific creams and dressings, with no return of the condition in 6 months.
research OsUEV1B, a Ubc Enzyme Variant Protein, Is Required for Phosphate Homeostasis in Rice
OsUEV1B protein is essential for controlling phosphate levels in rice.