research Metabolic and Pathologic Profiles of Human LSS Deficiency Recapitulated in Mice
Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
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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 Retinol Dehydrogenase 12 (RDH12): Role in Vision, Retinal Disease, and Future Perspectives
The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
research Clinical and Laboratory Characteristics of Individuals Aged 17 Years or Younger With Homeostatic Iron Regulator (HFE) p.C282Y Homozygosity, a Common Hemochromatosis Genotype
Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
research Androgen Receptors And Their Biology
Androgen receptors are key for development and health, affecting conditions like prostate cancer and male pattern baldness.
research The Role of Aquaporins in Polycystic Ovary Syndrome: A Way Towards a Novel Drug Target in PCOS
Aquaporins could be new drug targets for treating polycystic ovary syndrome.
research A Newborn With Hair Loss
The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
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 Acrodermatitis Enteropathica – Diagnostic Challenges
Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
research A Case of MBTPS1-Related Disorder Due to Compound Heterozygous Variants in MBTPS1 Gene: Genotype-Phenotype Expansion and the Emergence of a Novel Syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research When Whorls Collide: The Development of Hair Patterns in Frizzled 6 Mutant Mice
Hair follicles in mutant mice self-organize into ordered patterns within a week.
research Heterogeneity in the Genetic Alterations and Clinical Presentation of Acrodermatitis Enteropathica: Case Report and Literature Review
AE can have varied symptoms and genetic causes, but zinc therapy helps.
research Human Regulatory T Cells: Role in Autoimmune Skin Diseases and Post-Transplant Nonmelanoma Skin Cancers
Understanding how Regulatory T Cells work could help create treatments for certain skin diseases and cancers.
research Giant Bilateral Myelolipomas in a Patient with Congenital Adrenal Hyperplasia
A patient with untreated congenital adrenal hyperplasia had large benign tumors in her adrenal glands removed, improving her symptoms.
research Significant Correction of Disease After Postnatal Administration of Recombinant Ectodysplasin A in Canine X-Linked Ectodermal Dysplasia
Giving a special protein to dogs with a certain genetic disease improved their symptoms but didn't help with hair growth.
research HSD3B1 Genotypes Conferring Adrenal-Restrictive and Adrenal-Permissive Phenotypes in Prostate Cancer and Beyond
Certain HSD3B1 gene types are linked to worse prostate cancer outcomes and affect treatment response and other health conditions.
research PLCD1 and Pilar Cysts
The research linked PLCD1 gene variants to the development of trichilemmal cysts.
research Genome-Wide Association Study in Japanese Females Identifies Fifteen Novel Skin-Related Trait Associations
Researchers found 15 new genetic links to skin traits in Japanese women.
research Genome-Wide Meta-Analysis Implicates Mediators of Hair Follicle Development and Morphogenesis in Risk for Severe Acne
Genetic variations affecting skin structure play a key role in severe acne.
research Synaptic Processes and Immune-Related Pathways Implicated in Tourette Syndrome
The research suggests that Tourette syndrome is linked to both brain signaling and immune system pathways.
research The Metabolic Syndrome-Associated Small G Protein ARL15 Plays a Role in Adipocyte Differentiation and Adiponectin Secretion
ARL15 is important for fat cell development and the release of the hormone adiponectin.
research Betaine Supplementation Is Less Effective Than Methionine Restriction in Correcting Phenotypes of CBS Deficient Mice
Methionine restriction works better than betaine for treating CBS deficiency symptoms in mice.
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 The Glucocorticoid Resistance Syndrome: Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene
A new gene variant causes glucocorticoid resistance in a mother and son.
research Biomedical Engineering Approaches for the Delivery of JAGGED1 as a Potential Tissue Regenerative Therapy
JAGGED1 could help regenerate tissues for bone loss and heart damage if delivered correctly.
research Eph Receptors and Ephrins: Therapeutic Opportunities
Eph receptors and ephrins may be promising targets for treating diseases, but more understanding is needed for effective and safe therapies.
research Alopecia Areata: Animal Models Illuminate Autoimmune Pathogenesis and Novel Immunotherapeutic Strategies
Animal models have helped understand hair loss from alopecia areata and find new treatments.
research Adipocytes in Skin Health and Disease
Fat cells are important for healthy skin, hair growth, and healing, and changes in these cells can affect skin conditions and aging.
research Role of Oxidative Stress in Polycystic Ovary Syndrome
Oxidative stress is a key factor in the development of Polycystic Ovary Syndrome, and weight management can improve symptoms.
research Meta-Analysis Identifies Novel Risk Loci and Yields Systematic Insights into the Biology of Male-Pattern Baldness
Researchers found 63 genes linked to male-pattern baldness, which could help in understanding its biology and developing new treatments.