research The genetics of alopecia areata
Alopecia areata has a complex genetic basis that was not fully understood as of 2001.
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research Dissecting Fibroblast Heterogeneity in Health and Fibrotic Disease
Different types of fibroblasts play various roles in both healthy and diseased tissues, and understanding them better could improve treatments for fibrotic diseases.
research MULTIPLE DEFECTS OF THE HAIR SHAFT IN NETHERTON'S DISEASE.
Netherton's disease causes multiple hair defects.
research Evaluation of DNA Variants Associated with Androgenetic Alopecia and Their Potential to Predict Male Pattern Baldness
DNA variants can predict male pattern baldness, with higher risk scores increasing baldness likelihood.
research A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia
A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
research Characteristics of phenotypes (clinical variants) of polycystic ovary syndrome in women of reproductive age
Most women with polycystic ovary syndrome (PCOS) have menstrual issues, infertility, acne, and excessive body hair, with the most common type being the non-androgenic phenotype.
research Understanding variation in prevalence estimates of polycystic ovary syndrome: a systematic review and meta-analysis
Including ovarian morphology in diagnosis increases PCOS prevalence estimates, highlighting the need for standardized criteria.
research Genetic Control/Involvement in Hair Fiber Traits
research Correction of ornithine transcarbamylase (OTC) deficiency in spf‐ash mice by introduction of rat OTC gene
Introducing the rat OTC gene partially corrected OTC deficiency in mice.
research 520 Body site heterogeneity and microbial diversity is lost in individuals with hidradenitis suppurativa
People with Hidradenitis Suppurativa have less diverse skin bacteria and different bacterial metabolism than healthy individuals.
research Hair shaft structures in EDAR induced ectodermal dysplasia
The EDAR gene mutation leads to thinner and more deformed hair shafts.
research Association of Autoimmune Regulator Gene Rs2075876 Variant, but Not Gene Expression with Alopecia Areata in Males: A Case–control Study
The AIRE gene variant rs2075876 is linked to a higher risk of alopecia areata in males.
research Lack of association between clinical and biochemical hyperandrogenism in patients with polycystic ovary syndrome
Clinical signs of excess male hormones and actual hormone levels in the blood do not always match in women with polycystic ovary syndrome.
research Is polymorphism of the STK11 gene a predictor of response to metformin in polycystic ovarian syndrome?
STK11 gene polymorphism does not predict metformin response in PCOS.
research Metabolic aspects of different phenotypes of polycystic ovary syndrome: Iranian PCOS Prevalence Study
The study suggests that being overweight or obese, not PCOS itself, is strongly linked to insulin resistance.
research SUN-332 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
research Decision‐Making Regarding the Administration of Live Vaccines to Patients With a FOXN1 Heterozygous Missense Variant
Live vaccines can be safely given to infants with a FOXN1 variant if their immune function improves over time.
research Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat
A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
research Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen
The research identified new skin traits in mice, some linked to human skin conditions.
research Aberrant Activation of the Hedgehog Signaling Pathway in Malignant Hematological Neoplasms
Abnormal Hedgehog signaling in blood cancers may help tumors grow and resist chemotherapy, suggesting potential for targeted treatments.
research BAC-mediated gene-dosage analysis reveals a role for Zipro1 (Ru49/Zfp38) in progenitor cell proliferation in cerebellum and skin
research Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency
A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
research Loss of a homologous group of proteins in a dominantly inherited ectodermal malformation
Naked-mouse hair lacks certain proteins and has less soluble fibril.
research A study on clinical correlation with Hyperinsulinemia in polycystic ovary Syndrome
High insulin levels are more common and a better predictor of carbohydrate issues in women with PCOS than glucose tolerance tests.
research Hypertrichosis lanuginosa acquisita associated with autoimmune hepatitis
HLA can be linked to autoimmune hepatitis.
research MON-913 Testosterone Secreting Ovarian Tumor: A Rare Cause of Erythrocytosis and Pulmonary Embolus
A rare ovarian tumor that produced testosterone caused a blood clot in the lungs and increased red blood cells in a woman.
research A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
research Sex dependent influence of a functional polymorphism in steroid 5‐α‐reductase type 2 (SRD5A2) on post‐traumatic stress symptoms
SRD5A2 gene variations affect PTSD symptoms differently in males and females.
research Correlation of Metabolic Syndrome in Different Phenotypes of Polycystic Ovary Syndrome and Pregnancy Rate
Different types of PCOS affect metabolic syndrome and pregnancy rates differently.
research Steroid 5α-reductase 2 deficiency leads to reduced dominance-related and impulse-control behaviors
Mice lacking steroid 5α-reductase 2 show less aggression and better impulse control.