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.
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research Perturbations in Fatty Acid Metabolism and Collagen Production Infer Pathogenicity of a Novel MBTPS2 Variant in Osteogenesis Imperfecta
A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
research Expanding The Phenotype Of Hyper-IgE Syndrome: Heterozygous Variant In IL6ST With Elevated Serum IgE And Isolated Abscesses
A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.
research A Kindred With Mutant IKAROS and Autoimmunity
A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
research BJD Editor's Choice: Genetic Mutations in Greek Melanoma Patients, Dermoscopic Features of Pigmented Nodular Tumors, Herlitz Junctional Epidermolysis Bullosa in the Netherlands, and HDAC9 in Male-Pattern Baldness
Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.
research Recently Identified Forms of Epidermolysis Bullosa
Three new types of a skin blistering disease were found, caused by specific gene mutations.
research Clinical Snippets: Melanoma Risk Prediction, Monilethrix Mutation, Keratitis-Ichthyosis-Deafness Syndrome, Skin Wrinkling and Lung Aging, Oxidative Stress in Androgenetic Alopecia
Melanoma risk tools need improvement, a gene mutation causes a hair disorder that might be treated by managing cell stress, a potential therapy for a skin-ear disorder involves blocking cell channels, skin wrinkling may indicate lung aging regardless of smoking, and oxidative stress might contribute to common baldness.
research Clinical Snippets: Insights into Dermatological Health and Disease
Melanoma risk tools need improvement, certain gene mutations cause skin diseases and could be treated by targeting those mutations, skin wrinkling may relate to lung aging due to genetic factors, and oxidative stress affects hair loss but can be reduced in low oxygen.
research Abstracts
The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
research Genome-Wide Association Study of Skin Complex Diseases
Genetic variants linked to ten skin diseases were found, showing both immune and non-immune factors play a role.
research Rare and Common Genetic Determinants of Metabolic Individuality and Their Effects on Human Health
Genetic variations greatly affect individual metabolism and can impact health and disease risk.
research Why Do Not All Chemotherapy Patients Lose Their Hair? Answering an Intriguing Question
Chemotherapy patients don't all lose their hair due to factors like hair growth rates, age, genetics, and the type of drugs used.
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 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 Grey, Curly, and Short-Haired Swiss Holstein Cattle Show Genetic Traces of the Simmental Breed
Swiss Holstein cattle with curly, short hair carry genes from the Simmental breed.
research Finding Bald Spots on Chromosome 20p11
New genes linked to male pattern baldness were found on chromosome 20p11.
research Integrated Single-Cell Chromatin and Transcriptomic Analyses of Human Scalp Reveal Etiological Insights Into Genetic Risk for Hair and Skin Disease
The research provided new insights into the genetic factors contributing to hair loss and skin conditions by analyzing individual cells from the human scalp.
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.
research Atrichia With Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review
New genetic mutations causing hair loss were found in a Chinese family.
research Deficient Anterior Pituitary With Common Variable Immune Deficiency (David Syndrome): A New Case and Literature Reports
DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
research Cost-Effectively Dissecting the Genetic Architecture of Complex Wool Traits in Rabbits by Low-Coverage Sequencing
Low-coverage sequencing is a cost-effective way to identify genes related to wool traits in rabbits.
research Mutational Analysis of Mitochondrial DNA in Maternal Inheritance of Polycystic Ovarian Syndrome
Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
research Sex Differences in COVID-19: The Role of Androgens in Disease Severity and Progression
Male hormones like testosterone may make COVID-19 worse, and testing for sensitivity to these hormones could help predict how severe a patient's symptoms might be. Treatments that reduce these hormones are being explored.
research Concept of Tinea Capitis
Terbinafine is the most effective treatment for tinea capitis, a scalp infection often confused with other conditions.
research Cardiovascular Features in Adult Individuals Affected with Tatton-Brown-Rahman Syndrome
Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
research An Epistatic Effect of KRT25 on SP6 Is Involved in Curly Coat in Horses
The genes KRT25 and SP6 affect curly hair in horses, with KRT25 also causing hair loss. If both genes are mutated, the horse gets curly hair and hair loss. KRT25 can hide the effect of SP6.
research Azathioprine-Induced Severe Myelosuppression Accompanied by Massive Hair Loss and Painful Oral Ulcer in an Autoimmune Hepatitis Patient with NUDT15 Minor Variant: A Case Report
Genetic testing is crucial before giving azathioprine to avoid severe side effects.
research Cost-Effectively Dissecting the Genetic Architecture of Complex Wool Traits in Rabbits by Low-Coverage Sequencing
Low-coverage sequencing is a cost-effective way to find genetic factors affecting rabbit wool traits.
research Synaptic Processes and Immune-Related Pathways Implicated in Tourette Syndrome
The study found that Tourette Syndrome may be linked to certain immune system processes and synaptic signaling.
research Whole-Genome SNP Genotyping Mapped a Novel Locus for Hereditary Hypotrichosis on Chromosome 2q31.1–q32.2
Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.