research A Direct Link Between Prss53, Hair Curvature, and Skeletal Dysplasia
The gene Prss53 affects hair shape and bone development in rabbits.
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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.
research Australasian Society for Dermatology Research Meeting, May 2006
The meeting highlighted the genetic basis of female pattern hair loss and various skin health insights.
research Clinical and Molecular Features in a Cohort of Middle Eastern Patients With Epidermolysis Bullosa
Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
research Whole Exome Sequencing in Alopecia Areata Patients Identifies a Hotspot Mutation in the Type II Hair Keratin Gene, KRT82
A mutation in the KRT82 gene is significantly associated with Alopecia Areata.
research Identification of the Ovine Keratin-Associated Protein 21-1 Gene and Its Association with Variation in Wool Traits
The KRTAP21-1 gene affects wool yield and can help improve wool production.
research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
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 Exploring Variation in Ovine KRTAP19-5 and Its Effect on Fine Wool Fibre Curvature in Chinese Tan Sheep
This study on 247 Chinese Tan sheep examined the KRTAP19-5 gene's impact on wool fibre curvature, identifying six sequence variants with seven SNPs. Variant B was linked to decreased wool fibre curvature and was less common in Chinese Tan sheep (18.5%) compared to other breeds (41.9%). The findings suggest that KRTAP19-5 variation influences wool fibre curvature, potentially aiding in developing genetic markers for selective breeding to enhance wool quality. However, no associations were found with other fibre traits, indicating that other genes and environmental factors also play a role.
research The Mean Staple Length of Wool Fiber Is Associated with Variation in the Ovine Keratin-Associated Protein 21-2 Gene
The KRTAP21-2 gene affects wool length and quality in sheep.
research Ovine KRTAP36-2: A New Keratin-Associated Protein Gene Related to Variation in Wool Yield
The KRTAP36-2 gene in sheep affects wool yield.
research Severe Thiopurine-Induced Myelotoxicity and Hair Loss in Japanese Patients with NUDT15 Gene Variant: A Retrospective Case-Control Study
Screening for the NUDT15 gene variant can prevent severe side effects from thiopurine drugs in East-Asian people.
research STUB1 Mutations in Autosomal Recessive Ataxias – Evidence for Mutation-Specific Clinical Heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research Clinical, Biochemical, and Mutational Findings in Biotinidase Deficiency Among Malaysian Population
Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
research 5α-Reductase Type 2 Gene Variant Associations with Prostate Cancer Risk, Circulating Hormone Levels, and Androgenetic Alopecia
Gene variant linked to prostate cancer, hormone levels, and hair loss.
research Ruxolitinib Rescues Multiorgan Clinical Autoimmunity in Patients With APS-1
Ruxolitinib significantly improves multiple autoimmune conditions in APS-1 patients.
research Acne
Acne is a common skin condition linked to diet, hormones, and genetics, and early treatment can prevent scarring.
research LO-010 Relationship Between The EULAR/ACR Classification Criteria And Organ Damage In Systemic Lupus Erythematosus
Higher EULAR/ACR scores in SLE patients predict more organ damage.
research IL-17 Axis Is a Significant Driver of Skin Inflammation in CARD14 Mutant Pityriasis Rubra Pilaris Model Mice
Blocking IL-17 can reduce skin inflammation in a mouse model of pityriasis rubra pilaris.
research Atrichia With Papular Lesions Confirmed Via Genetic Testing: A Case Report
Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.
research Androgen Biosynthesis and Gene Defects
Gene mutations can cause problems in male genital development.
research K ATP Channels and Cardiovascular Disease
K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
research Replicative Stress, Stem Cells, and Aging
Maintaining DNA health in stem cells is key to preventing aging and tissue breakdown.
research Androgen Receptor Gene Polymorphism and Polycystic Ovary Syndrome
The conclusion is that androgen receptor gene polymorphism might be a marker for polycystic ovary syndrome, but more research is needed.
research A Clinical Approach to Severe Insulin Resistance
Severe insulin resistance can be managed with medication, lifestyle changes, and treatment for related conditions.
research Keratinocyte-Derived Follistatin Regulates Epidermal Homeostasis and Wound Repair
Activin activation in skin cells speeds up wound healing without affecting scar quality.
research Investigation of Six Novel Susceptibility Loci for Male Androgenetic Alopecia in Women With Female Pattern Hair Loss
Six new hair loss factors in men not linked to female hair loss.
research Novel PAX9 Mutation Associated with Syndromic Tooth Agenesis
A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
research CYP21A2 Genotypes Do Not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia
The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.