research Genome-Wide Associations with Body and Fleece Weight in United States Sheep
Certain genetic markers can help predict wool production in U.S. sheep.
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research A rare manifestation of STING-associated vasculopathy with onset in infancy: a case report
Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.
research Ehlers-Danlos syndrome: From bedside to bench
Comprehensive genetic testing and international collaboration are crucial for better understanding and managing Ehlers-Danlos syndromes.
research Association Between Interleukin 18 Polymorphisms and Alopecia Areata in Koreans
Certain genetic variations in IL18 may increase the risk of alopecia areata in Koreans.
research The slick hair coat locus maps to chromosome 20 in Senepol-derived cattle
The gene for slick hair in Senepol cattle is located on chromosome 20 and may involve the SRD5A2 gene.
research EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
research Chronic Overlapping Pain Conditions and Nociplastic Pain
Nociplastic type pain, common in Chronic Overlapping Pain Conditions, is a complex, heritable trait linked to 24 unique genetic factors and 127 genes, with potential shared mechanisms in cognitive, personality, and metabolic traits.
research Keratin disorders: from gene to therapy
New treatments targeting specific genes show promise for treating keratin disorders.
research Defining the Cellular Environment in the Organ of Corti following Extensive Hair Cell Loss: A Basis for Future Sensory Cell Replacement in the Cochlea
The conclusion is that genetic differences affect how the cochlea heals after hair cell loss, which may challenge the creation of hearing loss treatments.
research A global analysis of CNVs in Chinese indigenous fine-wool sheep populations using whole-genome resequencing
The study mapped genetic variations in sheep, linking them to traits like milk production and growth.
research Biochemical Roles of Testosterone and Epitestosterone to 5α-Reductase as Indicators of Male-Pattern Baldness
High testosterone to epitestosterone ratio in hair could predict male-pattern baldness.
research Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research Update on Melasma—Part I: Pathogenesis
Melasma's causes include genetics, sun exposure, hormones, and oxidative stress, and understanding these can help create better treatments.
research New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis
A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
research Drivers of plateau adaptability in cashmere goats revealed by genomic and transcriptomic analyses
The study found that genetic differences related to hair growth and other traits help cashmere goats adapt to high-altitude environments.
research A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
research Identification of Breast Cancer-Associated Lipids in Scalp Hair
Breast cancer may be detectable through changes in scalp hair lipids.
research Predicting Human Appearance from DNA for Forensic Investigations
DNA can predict physical traits like eye and hair color accurately, especially in Europeans, but predicting other traits and in diverse populations needs more research.
research Effect of lentivirus-mediated miR-182 targeting FGF9 on hallux valgus
miR-182 may help treat hallux valgus by targeting FGF9.
research A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
research Genome wide association analysis of root hair traits in rice reveals novel genomic regions controlling epidermal cell differentiation
Scientists found new genetic areas that affect how rice root hairs grow and develop.
research A Powerful Method for Pleiotropic Analysis under Composite Null Hypothesis Identifies Novel Shared Loci Between Type 2 Diabetes and Prostate Cancer
The new method found new shared genetic areas linked to both Type 2 Diabetes and Prostate Cancer.
research ADULT (acro–dermato–ungual–lacrimal–tooth) syndrome: A case report from India
Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
research The association of urolithiasis and androgenetic alopecia
Hair loss linked to kidney stones in people under 60.
research EBS in Children with De Novo Pathogenic Variants Disturbing Krt14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
research Porokeratotic adnexal ostial nevus: a paradigm of cutaneous mosaicism
PAON shows skin patterns due to genetic mosaicism.
research Red Blood Cells Folate Level in Patients with Alopecia Areata
Red blood cell folate levels are reliable indicators of long-term folate status in alopecia areata patients.
research Trichoscopic Features, Clinical Correlates, and Risk Prediction in Female Pattern Hair Loss: A Retrospective Case-Control Study
Female Pattern Hair Loss is linked to genetics, diet, stress, and certain health conditions.