research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
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90-120 / 1000+ resultsresearch Hidradenitis Suppurativa as a Potential Subtype of Autoinflammatory Keratinization Disease
Hidradenitis suppurativa might be a type of autoinflammatory skin disease.
research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
research Cutaneous Manifestations of Polycystic Ovary Syndrome: A Cross-Sectional Clinical Study
Skin problems like acne, excessive hair growth, and oily skin are common in women with PCOS and can help with early diagnosis.
research Hair Follicle Stem Cell Progeny Heal Blisters While Pausing Skin Development
When skin blisters, healing the wound is more important than growing hair, and certain stem cells mainly fix the blisters without helping hair growth.
research New Case of Trichorhinophalangeal Syndrome-Like Phenotype with a De Novo t(2;8)(p16.1;q23.3) Translocation Which Does Not Disrupt the TRPS1 Gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research Shortcutting the Diagnostic Odyssey: The Multidisciplinary Program for Undiagnosed Rare Diseases in Adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
research Triglycerides, Independent of Ferriman Gallwey Score, Is a Main Determinant of Free Testosterone Index in PCOS
High triglyceride levels are a key factor affecting testosterone levels in women with PCOS.
research Scarring Alopecias: Pathology and an Update on Digital Developments
New digital tools are improving the diagnosis and understanding of irreversible hair loss conditions.
research Porokeratotic Eccrine Ostial And Dermal Duct Nevus And Porokeratotic Eccrine And Hair Follicle Nevus: Is Nomenclature 'Porokeratotic Adnexal Ostial Nevus' More Appropriate?
The term "Porokeratotic Adnexal Ostial Nevus" is suggested as a more appropriate name.
research Pattern of Dermatologic Manifestations in Polycystic Ovarian Disease Cases from a Tertiary Care Hospital
The most common skin problems in polycystic ovarian disease are hirsutism and acne, and managing these symptoms is key for treatment.
research High-Throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort
Some women with PCOS have rare genetic variants linked to the condition.
research Association of Insulin Resistance with Polycystic Ovary Syndrome Phenotypes and Patients’ Characteristics: A Cross-Sectional Study in Iran
Most women with PCOS have insulin resistance, especially those with phenotype B.
research Unveiling a Shared Precursor Condition for Acne Keloidalis Nuchae and Primary Cicatricial Alopecias
A condition with certain scalp changes may come before acne keloidalis nuchae and other similar hair loss disorders.
research Abstracts From The 55th European Society Of Human Genetics Conference: E-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research Case Report: Two Individuals With AEBP1-Related Classical-Like EDS - Further Clinical Characterisation and Description of Novel AEBP1 Variants
The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.
research A Frameshift Mutation in the TRPS1 Gene Showing a Mild Phenotype of Trichorhinophalangeal Syndrome Type 1
A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
research Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
research Influence of Dysbiosis on Scalp Pathology
Imbalance in scalp bacteria can affect hair and scalp health, potentially leading to conditions like hair loss, psoriasis, and dandruff.
research Study of Cutaneous Manifestations in Patients with Polycystic Ovarian Syndrome Attending a Tertiary Care Centre
Women with PCOS often have acne, obesity, and excess hair, especially on the chin and upper lip.
research Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities
The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
research Morpho-Regulation of Ectodermal Organs
Modulating BMP activity changes the number, size, shape, and type of ectodermal organs.
research Influence of Genotype and Hyperandrogenism on Sexual Function in Women With Congenital Adrenal Hyperplasia
Women with nonclassic congenital adrenal hyperplasia experience more sexual dysfunction and distress.
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.
research Exploring the Therapeutic Potential of Herbal Intervention in Polycystic Ovary Syndrome: A Systematic Review and Meta-Analysis
Herbal treatments can help manage PCOS symptoms.
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 De Novo Single-Nucleotide and Copy Number Variation in Discordant Monozygotic Twins Reveals Disease-Related Genes
The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
research Phenotypic Variation in Biotinidase Deficiency
Biotinidase deficiency has various symptoms and can be treated with biotin supplements.
research Phenotypic Plasticity: Driver of Cancer Initiation, Progression, and Therapy Resistance
Understanding phenotypic plasticity is crucial for developing effective cancer therapies.
research Mutational Spectrum in 101 Patients with Hypohidrotic Ectodermal Dysplasia and Breakpoint Mapping in Independent Cases of Rare Genomic Rearrangements
Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.