research Familial Aggregation of Phenotypic Expression of Premature Hair Hypopigmentation in the Craniofacial Region
Premature hair graying in the face may be influenced by genetics and environment.
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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 Association Between IL16 Gene Polymorphisms and Susceptibility to Alopecia Areata in the Korean Population
IL16 gene variations may affect the risk of alopecia areata in Koreans.
research Novel Splicing-Site Mutation in DCAF17 Gene Causing Woodhouse-Sakati Syndrome in a Large Consanguineous Family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
research WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes
WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
research Evaluation of Androgen Receptor Gene as a Candidate Gene in Female Androgenetic Alopecia
AR gene not major factor in female hair loss; different from male hair loss.
research Disorders of Sex Development
DSDs are birth conditions causing unusual sex development, managed with personalized care and sometimes surgery, but still lack a standard treatment approach.
research Clinical Exome Sequencing Unveils the Genetic Landscape of Polycystic Ovarian Syndrome Focusing on Lean and Obese Phenotypes: Implications for Cost-Effective Diagnosis and Personalized Treatment
Young women in West Bengal, India, with PCOS often have estrogen resistance, leptin receptor issues, folate deficiency, T2DM, and acanthosis, commonly linked to obesity.
research Phenotypic Plasticity: Driver of Cancer Initiation, Progression, and Therapy Resistance
Understanding phenotypic plasticity is crucial for developing effective cancer therapies.
research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
research Observation of Phenotypic Variation Among Indian Women With Polycystic Ovary Syndrome (PCOS) From Delhi and Srinagar
Indian women with PCOS from Delhi and Srinagar show different symptoms, with Delhi women having higher obesity and blood sugar issues, and Srinagar women showing more hair growth and testosterone levels.
research Digit-Length Ratios (2D:4D) as a Phenotypic Indicator of In Utero Androgen Exposure Is Not Prognostic for Androgenic Alopecia: A Descriptive-Analytic Study of 1200 Iranian Men
Finger length ratios don't predict baldness in men.
research Involucrin, But Not Filaggrin and Kdap mRNA, Expression Is Downregulated in 3-D Cultures of Intact Rat Hair Bulbs After Calcium Stimulation
Calcium reduces involucrin in rat hair bulbs but doesn't affect filaggrin and Kdap.
research An Indian Evidence-Based Study of Prevalence, Phenotypic Features, and Lifestyle Modifications of Polycystic Ovarian Syndrome Patients
The study found that PCOS affects about 6.5-6.8% of women in both urban and rural areas of Telangana, India, and highlighted the importance of lifestyle changes for management.
research 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 The Role of Histone Demethylases in Disease
Histone demethylases play a key role in the development of many diseases and may be targets for treatment.
research Influence of Bovine Milk Oligosaccharides on Sebocyte Lipid Content and Inflammatory Mediators
Cow milk sugars increase fat production and inflammation in skin oil cells.
research British Society for Pediatric Dermatology Annual Meeting, Sheffield, 18-19 November 2016
The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
research Variable Expressivity of Syndromic BMP4-Related Eye, Brain, and Digital Anomalies: A Review of the Literature and Description of Three New Cases
BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
research Acupuncture in Polycystic Ovary Syndrome: Potential and Challenges
Acupuncture may improve reproductive and metabolic functions in PCOS without negative side effects, but more research is needed to confirm its effectiveness.
research Dietary Fat- and Obesity-Sensitive Dermal Adipocyte PKCβ Induction and Inflammation Cross-Talk
Eating a lot of fat increases PKCβ and inflammation in skin fat cells, which affects skin and hair health.
research Syndactyly Type III and Hypotrichosis in Oculodentodigital Syndrome with GJA1 Mutation
A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
research Consensus on Women's Health Aspects of Polycystic Ovary Syndrome: The Amsterdam ESHRE/ASRM-Sponsored 3rd PCOS Consensus Workshop Group
Experts agree that PCOS affects women's health in complex ways, but more research is needed to understand and treat it effectively.
research Regulation of Keratin 9 in Nonpalmoplantar Keratinocytes by Palmoplantar Fibroblasts Through Epithelial-Mesenchymal Interactions
Nonpalmoplantar skin cells can be made to express keratin 9 by interacting with palmoplantar fibroblasts.
research A Case of IFAP Syndrome with Severe Atopic Dermatitis
A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
research Polycystic Ovarian Syndrome: Comprehensive Overview and Management Approaches
Eating 500 fewer calories a day and making lifestyle changes can improve PCOS symptoms and reduce diabetes risk; more research is needed on its causes and treatments.
research The Frequency of Metabolic Syndrome Is Higher Among Brazilian Women With PCOS, Menstrual Irregularity, and Hyperandrogenism
Brazilian women with PCOS and both menstrual irregularity and high male hormone levels have a higher chance of having metabolic syndrome.
research Contrast Enhanced Phototrichogram Pinpoints Scalp Hair Changes in Androgen Sensitive Areas of Male Androgenetic Alopecia
CE-PTG detects early hair follicle issues in balding areas, helping measure male hair loss.
research Pseudofolliculitis Barbae: Overview and Treatment Modalities
The document concludes that various treatments, including laser therapy, are effective for managing pseudofolliculitis barbae, especially in darker skin types.
research Polycystic Ovarian Syndrome: Comprehensive Diagnosis and Treatment Approaches
The document concludes that managing PCOS requires a comprehensive approach, including lifestyle changes and medication, to improve symptoms and reduce health risks.