research Acrodermatitis Enteropathica – Diagnostic Challenges
Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
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research A Newly Identified Missense Mutation of the HR Gene Is Associated with a Novel, Unusual Phenotype of Marie Unna Hereditary Hypotrichosis 1 Including Limb Deformities
A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
research Enhancing Diagnostic Yield of Monogenic Diabetes Through Phenotypic and Molecular Reanalysis of 128 Individuals With Young Onset Hyperglycemia: Highlighting the Significance of Accurate Case Characterization
Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
research Polygenic Risk Score Predicting Susceptibility and Outcome of Benign Prostatic Hyperplasia in the Han Chinese
A higher genetic risk score increases the chance of getting benign prostatic hyperplasia and affects treatment outcomes in Han Chinese men.
research Hair Follicle Stem Cells: Walking the Maze
Hair follicle stem cells are key for hair and skin regeneration, can be reprogrammed, and have potential therapeutic uses, but also carry a risk of cancer.
research Vesicle Formation and Follicular Root Sheath Separation in Mice Homozygous for Deleterious Alleles at the Balding Locus
A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.
research Hair Follicle Melanogenesis Reflected in Hair Pigmentation as a Developmental Factor in Alopecia Areata
Hair color is not a risk factor for developing alopecia areata.
research Sequence Variation in Caprine KRTAP6-2 Affects Cashmere Fiber Diameter
Different versions of the KRTAP6-2 gene in goats can lead to thinner cashmere fibers.
research The Association of Gene Expression and Single Nucleotide Polymorphism (rs6152 SNP) in Androgen Receptor Gene with Recurrent Spontaneous Abortion in Iraqi Women
The androgen receptor gene doesn't affect women with recurrent spontaneous abortions, but having a mutant genotype might protect against it.
research Clinical Snippets: Dermatological Studies and Findings
Glycerol may improve wound healing and prevent keloids, a device can measure itch intensity, male pattern baldness is highly heritable, and fumaric acid esters may work for psoriasis by causing cell death in T cells.
research Gata6 Promotes Hair Follicle Progenitor Cell Renewal by Genome Maintenance During Proliferation
Gata6 is important for protecting hair growth cells from DNA damage and keeping normal hair growth.
research Expansion of the Spectrum of ITGB6-Related Disorders to Adolescent Alopecia, Dentogingival Abnormalities, and Intellectual Disability
A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
research A New Clinical Variant of Hereditary Localized Alopecia: Report of a Chinese Family Mapped to Chromosome 2p25.1–2p23.2
A new type of hereditary hair loss in a Chinese family is linked to chromosome 2p25.1–2p23.2.
research The Association Between Polycystic Ovary Syndrome and Its Dermatological Manifestations
Women with PCOS are more likely to have skin problems like excessive hair, acne, and hair loss.
research Aging Skin: A Window to the Body
Skin aging reflects overall body aging and can indicate internal health conditions.
research Effects of Biomaterials Derived from Germinated Hemp Seeds on Stressed Hair Stem Cells and Immune Cells
Hemp seed biomaterials may reduce hair loss and improve hair growth.
research Exploring the Relationship Between Immune Cells and Non-Scarring Hair Loss: A Mendelian Randomization Study
Certain immune cells are linked to non-scarring hair loss, suggesting potential for immune-targeted treatments.
research The Prediction of Hairfall Pattern in a Person Using Artificial Intelligence for Better Care and Treatment
AI can predict hair loss patterns to improve care and treatment.
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 Alopecia Areata: A Multifactorial Autoimmune Condition
Alopecia areata is an autoimmune disease causing patchy hair loss, often with other autoimmune disorders, but its exact causes are unknown.
research A Genome-Wide Association Study of Chemotherapy-Induced Alopecia in Breast Cancer Patients
A specific gene variant is linked to a higher risk of hair loss from chemotherapy in breast cancer patients.
research QuantAnts Machines Discover Biomarkers for RAS Signaling Activation and Design sgRNAs for CRISPR to Target Complex CD9, CD34, and CD74
The QuantAnts machines can find cancer markers and create CRISPR targets for them.
research A Cross-Sectional Study of Clinical, Dermoscopic, Histopathological, and Molecular Patterns of Scalp Melanoma in Patients With or Without Androgenetic Alopecia
Scalp melanoma is often diagnosed late in people with hair loss, leading to worse outcomes.
research Relationship of a Novel c.429delC Deletion in Hairless Gene HR with Alopecia in Two Families from Southern Punjab, Pakistan
A new mutation in the Hairless gene causes hair loss in two Pakistani families.
research Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
research Clinical and Genetic Findings in a Chinese Family with VDR-Associated Hereditary Vitamin D-Resistant Rickets
A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
research Molecular Epidemiology of Hypospadias: Review of Genetic and Environmental Risk Factors
Both genes and environmental factors like chemicals may contribute to the increase in hypospadias, but the exact causes are still unclear.
research A Study on the Pattern of Genetic Inheritance of Polycystic Ovarian Syndrome
PCOS and related metabolic issues often run in families.
research Clinical Impact of Molecular Diagnostics in Endocrinology
Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
research Association of Dyslipidemia and Androgenetic Alopecia: A Case Control Study
Men with genetic hair loss are more likely to have abnormal blood lipid levels, especially if the hair loss is severe.