research Case Report of Schöpf–Schulz–Passarge Syndrome Resulting from a Missense Mutation, p.Arg104Cys, in WNT10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
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research Assessment of Hair and Cashmere Properties and Their Genetic Background of Several Goat Breeds in Southwest China
Crossbreeding improves goat fiber quality, and specific genes affect hair traits and color.
research From Bedside to Bench: Regulation of Host Factors in SARS-CoV-2 Infection
The conclusion is that certain genetic factors and blood types may affect COVID-19 severity, but changes in ACE2 and TMPRSS2 genes are not clearly linked to it.
research Intraethnic Variation in Steroid-5-Alpha-Reductase Polymorphisms in Prostate Cancer Patients: A Potential Factor Implicated in 5-Alpha-Reductase Inhibitor Treatment
Genetic differences within ethnic groups may affect prostate cancer treatment effectiveness.
research Genetic Variation in the Ovine KAP22-1 Gene and Its Effect on Wool Traits in Egyptian Sheep
Certain genetic changes in the KAP22-1 gene are linked to better wool quality in Egyptian sheep.
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 Genetic Variations Associated With Response to Dutasteride in the Treatment of Male Subjects With Androgenetic Alopecia
Genetic variations affect dutasteride treatment response for male pattern hair loss.
research Longer TA Repeat but Not V89L Polymorphisms in the SRD5A2 Gene May Confer Acne Risk in the Chinese Population
Longer TA repeats in the SRD5A2 gene may increase acne risk in Chinese people.
research Alopecia And Ocular Alterations: A Role For Minoxidil?
Minoxidil, a common alopecia medication, might cause eye changes due to its properties and lack of tissue selectivity.
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 Lack of Concordance and Linkage Disequilibrium Among Brothers for Androgenetic Alopecia and CAG/GGC Haplotypes of the Androgen Receptor Gene in Mexican Families
No clear link between specific gene and hair loss in Mexican brothers.
research Case 1: Severe Acne – Not Just Skin Deep
Severe acne in a young girl may indicate underlying hormonal issues.
research CRISPR/Cas9-Based Targeted Genome Editing for Correction of Recessive Dystrophic Epidermolysis Bullosa Using iPS Cells
The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
research Characterization of Novel TMEM173 Mutation with Additive IFIH1 Risk Allele
A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
research Cross-Species Amplification of Human Microsatellite Markers in Pig-Tailed and Stump-Tailed Macaques
Some human genetic markers work for genetic studies in pig-tailed and stump-tailed macaques, which can help in their conservation.
research Clinical Exome Sequencing Unveils the Genetic Landscape of Polycystic Ovarian Syndrome Focusing on Lean and Obese Phenotypes: Implications for Cost-Effective Diagnosis and Personalized Treatment
Young women in West Bengal, India, with PCOS often have estrogen resistance, leptin receptor issues, folate deficiency, T2DM, and acanthosis, commonly linked to obesity.
research Sparse Haplotype-Based Fine-Scale Local Ancestry Inference at Scale Reveals Recent Selection on Immune Responses
Recent selection on immune response genes was identified across seven ethnicities.
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 Multi-Ancestry Tandem Repeat Association Study of Hair Color Using Exome-Wide Sequencing
Tandem repeats significantly influence hair color, especially darker shades, across different ancestries.
research Influence of NUDT15 Genotyping on Dose Intensity of Thiopurine Administration and Long-Term Clinical Outcomes
Personalized thiopurine dosing based on NUDT15 genotyping can improve long-term outcomes for ulcerative colitis and Crohn's disease patients.
research Genetic Single Nucleotide Polymorphisms of IL-16 and Its Concentration in Patients Infected with Alopecia Areata in Diyala Province, Iraq
Certain genetic variations in IL-16 may increase the risk of alopecia areata.
research A Brazilian Case of IFAP Syndrome With Severe Congenital Ichthyosis and Limb Malformations Caused by a Rare Variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research The Relation of the SHBG Gene Polymorphism (rs1799941) with PCOS in a Group of Iraqi Women
Certain changes in the SHBG gene may increase the risk of PCOS in Iraqi women.
research Longitudinal Clinical Course in Patients With 5α-Reductase Type 2 Deficiency Treated With Testosterone and Dihydrotestosterone During Infancy and Puberty
Testosterone and dihydrotestosterone treatments can help with penile growth in males with 5α-reductase type 2 deficiency, with dihydrotestosterone being more effective in infancy.
research Identification of a Novel Homozygous LAMB3 Mutation in a Chinese Male With Junctional Epidermolysis Bullosa and Severe Urethra Stenosis: A Case Report
A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
research Primary Cilia Regulate Meibomian Glands Development and Dimensions Without Impairing Lipid Composition of the Meibum
Primary cilia affect the size and oil production of eye glands but not the oil's makeup.
research Independent DSG4 Frameshift Variants in Cats with Hair Shaft Dystrophy
Cats with abnormal hair had DSG4 gene changes causing hair problems.
research Genome-Wide Association Studies for Immunoglobulin Concentrations in Colostrum and Serum in Chinese Holstein
Certain genes influence immunoglobulin levels in Chinese Holstein cows, which can improve calf health.
research Genome-Wide Association Studies for Immunoglobulins in Colostrum and Serum in Chinese Holstein
Selective breeding can enhance immunity in dairy cattle.
research Index
The document is a detailed medical reference on skin and genetic disorders.