research Phenotypic Variability Associated with WNT10A Nonsense Mutations
WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
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research The Clinical Spectrum of Parathyroid Disease
The document concludes that parathyroid diseases have a range of clinical features and outcomes, with some conditions being treatable and others having a high risk of mortality.
research The Prevalence and Phenotypic Features of Polycystic Ovary Syndrome: A Systematic Review and Meta-Analysis
Polycystic ovary syndrome affects about 6-10% of women, with varying symptoms and the need for standardized global definitions.
research Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
research MendelVar: Gene Prioritization at GWAS Loci Using Phenotypic Enrichment of Mendelian Disease Genes
MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
research The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End of KRT10
Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research Phenotypic Characterization of Patients with Polycystic Ovary Syndrome in a Population from the Ecuadorian Andes: A Cross-Sectional Study
Classical PCOS types A and B are most common and linked to higher health risks.
research Phenotypic Heterogeneity in Human Genetic Diseases: Ultrasensitivity-Mediated Threshold Effects as a Unifying Molecular Mechanism
Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.
research Effect of Body Mass Index on Phenotypic Features of Polycystic Ovary Syndrome in Singapore Women: A Prospective Cross-Sectional Study
High BMI worsens hair growth in women with PCOS.
research Comparative Genome Analyses Reveal the Unique Genetic Composition and Selection Signals Underlying the Phenotypic Characteristics of Three Chinese Domestic Goat Breeds
Chinese domestic goats have unique genetic traits due to domestication and geographic isolation.
research White Piedra Caused by Trichosporon Inkin: A Report of Two Cases in a Northern Climate
White piedra, a rare fungal infection, was diagnosed in two women in a northern climate.
research Disease Causing Homozygous Variants in the Human Hairless Gene
New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
research AAPS and PSRC 2016 Abstract Supplement
The supplement highlighted advancements and challenges in plastic and reconstructive surgery, including the impact of smoking, chemotherapy, and new treatments like Tafluprost for hair loss.
research Molecular Genetics of Androgen Insensitivity
Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.
research The Diagnosis of Polycystic Ovary Syndrome: The Criteria Are Insufficiently Robust for Clinical Research
The current methods for diagnosing polycystic ovary syndrome are too vague and may lead to misdiagnosis and problems in research.
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 Congenital Adrenal Hyperplasia: A Comprehensive Review
The document concludes that early diagnosis and treatment of Congenital Adrenal Hyperplasia are crucial for preventing serious health issues and improving patient outcomes.
research Analysis of the Human Diseasome Using Phenotype Similarity Between Common, Genetic, and Infectious Diseases
The study found that diseases can be grouped by symptoms and that the accuracy of predicting disease-related genes varies with the data source.
research Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
research New Challenge to Cancer and Longevity
A group has developed therapies that show promise for treating cancer and various other conditions.
research The Role of AUTS2 in Neurodevelopment and Human Evolution
The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
research Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm
New gene identification techniques have improved the understanding and classification of inherited hair disorders.
research Acromegaloid Facial Appearance: Case Report and Literature Review
The document concludes that AFA should be considered in patients with acromegaly-like features but normal hormone levels, and more cases need to be identified to understand the condition fully.
research A Mutation in the Type II Hair Keratin KRT86 Gene in a Han Family with Monilethrix
A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
research Case Report: A Novel Splice-Site Mutation of MTX2 Gene Caused Mandibuloacral Dysplasia Progeroid Syndrome: The First Report from China and Literature Review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research Improving Translational Research in Sex-Specific Effects of Comorbidities and Risk Factors in Ischemic Heart Disease and Cardioprotection: Position Paper and Recommendations of the ESC Working Group on Cellular Biology of the Heart
The document concludes that future heart disease research should account for sex-specific differences to improve diagnosis, treatment, and outcomes.
research Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed
The unique coat of lykoi cats is likely caused by new variants in the Hairless gene.
research Healthy Hair: Form and Function
Hair health is influenced by genetics, aging, and environmental factors, with proper care needed to maintain it.
research Functional Annotation of Genes Underlying Hair Disorders
The study identified key genes and pathways linked to hair disorders, aiding precision medicine.