research A Homozygous Nonsense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia
A specific gene mutation causes complete hair loss without other health issues.
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840-870 / 1000+ resultsresearch RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research Author response: Loss of Dnmt3a and Dnmt3b does not affect epidermal homeostasis but promotes squamous transformation through PPAR-γ
Loss of Dnmt3a and Dnmt3b leads to more aggressive skin tumors, but blocking PPAR-γ can reduce this effect.
research 874 Mesothelioma of the Tunica Vaginalis Testis: A Clinicopathologic Study of 14 Patients with Evaluation of Markers of Mesothelial Malignancy
Mesothelioma of the tunica vaginalis testis is rare, often high-grade, and has a median survival of about 24 months.
research A mutation in MAP2 is associated with prenatal hair follicle density
A mutation in the MAP2 gene causes reduced hair follicle density, leading to hairlessness.
research Melanoma: Genetic Abnormalities, Tumor Progression, Clonal Evolution and Tumor Initiating Cells
Melanoma's complexity requires personalized treatments due to key genetic mutations and tumor-initiating cells.
research Molecular basis of androgen insensitivity
Mutations in the androgen receptor gene cause androgen insensitivity, leading to female traits in genetically male individuals.
research Coexistence of a Basal Cell Carcinoma and Leiomyosarcoma
A rare case showed basal cell carcinoma and leiomyosarcoma coexisting, needing careful diagnosis and treatment.
research Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full.
Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
research Androgen receptor signaling as a new target for intervention in acute myeloid leukemia
Targeting androgen receptor signaling may improve acute myeloid leukemia treatment.
research Genetic Variation in the Human Androgen Receptor Gene Is the Major Determinant of Common Early-Onset Androgenetic Alopecia
Genetic variation in the androgen receptor gene mainly causes early-onset hair loss, with maternal inheritance playing a key role.
research Converging physiological roles of the anthrax toxin receptors
CMG2 and TEM8 receptors have distinct roles in skin and growth disorders, affecting collagen breakdown and growth.
research Morphologic and molecular characterization of two novel Krt71 (Krt2-6g) mutations: Krt71 rco12 and Krt71 rco13
research CPC12 Coinheritance of BRCA2 and CYLD germline pathogenic variants associated with targetable metastatic malignant cylindroma
Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
research Molecular basis of androgen receptor diseases
Mutations in the androgen receptor gene cause various disorders.
research Association of HSPA1B SNP rs6457452 with Alopecia Areata in the Korean Population
The SNP rs6457452 is linked to a higher risk of alopecia areata in Koreans.
research Mutation in 5′ upstream region of GCH I 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 A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
research News in brief
Researchers discovered potential origins and new treatments for skin cancer, including biomarkers for melanoma and therapies that reduce tumor growth.
research Improving selective androgen receptor modulator discovery and preclinical evaluation
We need better ways to test and understand SARMs to make safer and more effective treatments.
research Structural perspectives on the androgen receptor, the elusive shape-shifter
The androgen receptor's shape-changing ability helps it function but can lead to cancer treatment resistance.
research A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients
A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
research Dysplastic nevi, cutaneous melanoma, and other skin neoplasms in patients with myotonic dystrophy type 1: A cross-sectional study
People with myotonic dystrophy type 1 have a higher chance of getting skin tumors, including melanoma.
research Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix
A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.
research Cellular localization of retinoic acid receptor-gamma expression in normal and neoplastic skin.
RAR-gamma 1 is important for normal skin maintenance and differentiation.
research Androgen receptor-mediated gene activation in prostate cancer cells
Androgen receptors help prostate cancer cells grow and resist drugs.
research Differential expression of phospho‐S6 in hair follicle tumors: Evidence of mammalian target of rapamycin pathway activation
The mTOR pathway may be involved in the development of hair follicle tumors, with higher activity in malignant tumors.
research Cutaneous Neoplasms in Myotonic Dystrophy Type 1
People with myotonic dystrophy type 1 tend to develop basal cell carcinoma at a younger age but not more frequently than others.
research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT 10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research 9. Immunology and Genetics
The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.