research BH10 Nailing the diagnosis
Consider amyloidosis in patients with specific nail changes and check for systemic issues.
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930-960 / 1000+ resultsresearch Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules
A rare gene mutation causes skin fragility and itching without affecting hair or nails.
research Current Genetics in Hair Diseases
Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
research Genotypes of Single-nucleotide polymorphisms on DENND1A in an association with polycystic ovary syndrome among Saudi Arabian females
SNP rs2479106 in the DENND1A gene may increase PCOS risk in Saudi Arabian females.
research A Case of Satoyoshi Syndrome: A Multisystem Disorder
Steroid treatment greatly improved the symptoms of a boy with a rare disorder called Satoyoshi syndrome.
research Epidermal Dysplasia and Abnormal Hair Follicles in Transgenic Mice Overexpressing Homeobox Gene MSX-2
Overexpressing the MSX-2 gene in mice causes skin and hair growth issues.
research Faculty Opinions recommendation of Modulation of phospholipid signaling by GLABRA2 in root-hair pattern formation.
GLABRA2 gene controls root-hair growth by regulating phospholipid signaling.
research Loss of Msx2 Function Down-Regulates the FoxE3 Expression and Results in Anterior Segment Dysgenesis Resembling Peters Anomaly
Loss of Msx2 function causes eye development issues similar to Peters anomaly.
research Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
research USING THE FROG EPIDERMIS TO UNCOVER DESMOSOME FUNCTION AND REGULATION IN THE DEVELOPING EMBRYO
Desmosomes are crucial for skin and heart development, and JNK may help regulate them.
research Genetic Mapping Of Hereditary Ectodermal Dysplasias And Hair Loss Genes
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
research The Polycystic Ovary Syndrome Evolutionary Paradox: a Genome-Wide Association Studies–Based, in silico, Evolutionary Explanation
The research suggests that the global distribution of PCOS is likely due to historical human migration and that genes affecting PCOS may have different impacts on males and females.
research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
research Polycystic Ovary Syndrome: A Complex Interplay of Hormones and Metabolism
PCOS involves hormonal and metabolic issues, increasing risks for diabetes and heart disease, and requires lifestyle changes and medication for management.
research Structural variation-driven FADS2P1 expression modulates hair trait diversity through unsaturated fatty acid metabolism in goats
research Fingerprint Arches in Alopecia Areata
Females with alopecia areata have more fingerprint arches.
research The atypical ‘hippocampal’ glutamate receptor coupled to phospholipase D that controls stretch‐sensitivity in primary mechanosensory nerve endings is homomeric purely metabotropic GluK2
A special receptor in sensory nerve endings helps control how they respond to stretching.
research Progressively intractable seizures, focal alopecia, and hemimegalencephaly
The boy had a unique condition with seizures, uneven hair loss, and an enlarged brain hemisphere.
research Epidermal-Derived Hedgehog Signaling Drives Mesenchymal Proliferation during Digit Tip Regeneration
Epidermal signaling helps regenerate fingertip tissue.
research Prevalence of Body Dysmorphia in Polycystic Ovary Syndrome ( PCOS) Patients
Body dysmorphia is common in women with PCOS, affecting their quality of life.
research Phenotypic Characterization of Patients with Polycystic Ovary Syndrome in a Population from the Ecuadorian Andes: A Cross-Sectional Study
PCOS phenotypes A and B are more common and linked to higher health risks in women from the Ecuadorian Andes.
research The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis
A specific mutation in PA-PLA1α causes abnormal hair growth.
research KRT16 wt Allele
Mutations in the KRT16 gene can cause skin and nail disorders.
research Polyzystisches Ovar-Syndrom (PCOS)
PCOS is a common hormonal disorder in women, treated with lifestyle changes and hormonal therapy.
research Curly : a new hair defect mutation in the SELH/bc mouse strain
The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.
research Nagashima-Type Palmoplantar Keratosis: A Common Asian Type Caused by SERPINB7 Protease Inhibitor Deficiency
Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
research Dunnigan-Type Familial Partial Lipodystrophy: Understanding and Treating the Syndrome
The document concludes that managing Dunnigan-Type Familial Partial Lipodystrophy involves treating associated health issues and using medications like metformin and leptin replacement.
research Atypical Morphological Patterns of Alopecia Areata with Trichoscopic and Histopathologic Correlation: A Case Series
Recognizing unusual patterns of hair loss helps dermatologists diagnose and manage Alopecia Areata better.
research Trichostasis Spinulosa of the Heel: Unique Presentation with Characteristic Morphology
A rare skin condition usually on the face was found on a man's heel.
research A Synonymous Polymorphism of APCDD1 Affects Translation Efficacy and is Associated with Androgenic Alopecia
A certain gene variation can affect protein production and is linked to male pattern baldness.