research De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
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840-870 / 1000+ resultsresearch Genetic association of complement component 2 polymorphism with systemic lupus erythematosus
The A allele of the C2 gene increases the risk of lupus, while the G allele may protect against it.
research Becker's nevus associated with chromosomal mosaicism and congenital adrenal hyperplasia
High androgen levels and genetic factors likely cause Becker's nevus and related symptoms.
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 Faculty Opinions recommendation of Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.
Six new genes linked to early hair loss were found, which also surprisingly connect to Parkinson's disease and lower fertility.
research Genetics of thyroid lesions updated
RET mutation is important in familial medullary thyroid carcinoma, and BRAF mutation in papillary thyroid carcinoma is linked to more aggressive cancer and higher death rates.
research Androgenetic alopecia: Identification of four genetic risk loci and evidence for the contribution of WNT signaling to its etiology
Four genetic risk areas related to male-pattern baldness were identified, with WNT signaling playing a role in its development.
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 A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females
A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
research Insights learned from L457(3.43)R, an activating mutant of the human lutropin receptor
The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
research Relationship Between Male Pattern Baldness and the Risk of Aggressive Prostate Cancer: An Analysis of the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial
Men with baldness at the front and top of their head at age 45 may have a higher risk of aggressive prostate cancer.
research A Case of Basal Cell Carcinoma Arising in Congenital Triangular Alopecia
A woman with a rare hair loss condition developed skin cancer in the bald area.
research Assessment of Dysregulation of HERC6 and Essential Biological Processes in Response to Laser Therapy of Human Arm Skin
Laser therapy on human skin affects the HERC6 gene and related genes, influencing many cell processes and requiring careful safety measures.
research MiR‐200c‐3p as a novel genetic marker and therapeutic tool for alopecia areata
miR-200c-3p could help diagnose and treat alopecia areata.
research Fatigue, alopecia and stomatitis among patients with breast cancer receiving cyclin-dependent kinase 4 and 6 inhibitors: a systematic review and meta-analysis
Breast cancer patients taking CDK4/6 inhibitors are more likely to experience fatigue, hair loss, and mouth sores.
research Cutaneous Adverse Effects of EGFR Therapy in Breast Cancer Treatment
EGFR inhibitors in breast cancer treatment can cause serious skin issues affecting patient quality of life.
research Nonmelanoma skin cancer treated with electronic brachytherapy: Results at 1 year
HDR electronic brachytherapy effectively treats nonmelanoma skin cancer with good cosmetic results and minimal side effects.
research A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix
A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
research Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
research Models for Skin Cancer
Malignant melanoma is the deadliest skin cancer, while BCC is the most common but rarely spreads, and SCC is more aggressive than BCC.
research Notch signaling is significantly suppressed in basal cell carcinomas and activation induces basal cell carcinoma cell apoptosis
Activating Notch signaling can kill basal cell carcinoma cells.
research Clinical Impact of Molecular Diagnostics in Endocrinology
Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
research Premature aging syndromes: From patients to mechanism
Studying premature aging syndromes helps understand human aging and suggests potential treatments.
research Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology
Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.
research Choroidal Melanoma and Lid Fibrofoliculomas in Birt-Hogg-Dubé Syndrome
A patient with Birt-Hogg-Dubé Syndrome also had choroidal melanoma, suggesting the need for careful eyelid exams in such patients.
research Safety and quality of life of CDK4/6 inhibitors therapy for hormone receptor-positive, human epidermal growth factor receptor 2-negative advanced breast cancer: a multicenter cross-sectional survey in China
CDK4/6 inhibitors affect safety and quality of life differently, requiring careful use.
research Risk factors for prostate cancer: An umbrella review of prospective observational studies and mendelian randomization analyses
Physical activity, height, and smoking affect prostate cancer risk.
research Tumor Necrosis Factor-Alpha and Polycystic Ovarian Syndrome: A Clinical, Biochemical, and Molecular Genetic Study
High levels of TNF-α may contribute to obesity and insulin resistance in PCOS, but not due to the C850T genetic variation.
research Prostate cancer risk and recurrence: the role of nutrition and clinical aspects
Higher cholesterol levels increase aggressive prostate cancer risk.
research Cytokeratins as Markers of Follicular Differentiation
TB and BCC tumors show similar follicular differentiation patterns.