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- Gain‐of‐function variants in the <i>ODC1</i> gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
- JAK1 gain-of-function variant causes alopecia areata, atopic dermatitis, and autoimmune thyroid disease
- Grey, curly and short-haired Swiss Holstein cattle show genetic traces of the Simmental breed
- Prediction of gain-of-function and loss-of-function mutations using Combined Annotation Dependent Depletion (CADD)
- Novel insights into cardiocutaneous syndromes
- Hoxc13 polyglycine repeat gain-of-function drives mammalian integument evolution by altering targeted genes and interactions
- Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding
- Hair Loss Caused by Gain-of-Function Mutant TRPV3 Is Associated with Premature Differentiation of Follicular Keratinocytes
- <i>PIK3CA</i> gain-of-function mutation in Schwann cells leads to severe neuropathy and aerobic glycolysis through a non-cell autonomous effect
- Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases
- Mixing the Old with the New: Drug Repurposing for Immune Deficiency in the Era of Precision Medicine and Pediatric Genomics
- Therapeutic inhibition of keratinocyte TRPV3 sensory channel by local anesthetic dyclonine
- Nociceptive and Nonnociceptive Roles of TRPV3 and Its “Druggability”
- Gene variants associated with acne vulgaris presentation and severity: a systematic review and meta-analysis
- PCSK9: From Nature’s Loss to Patient’s Gain
- The Polycystic Ovary Syndrome Health-Related Quality-of-Life Questionnaire: Confirmatory Factor Analysis
- Hairless is a nuclear receptor corepressor essential for skin function
- 316 Specialized ribosomes in human dermal fibroblast senescence
- The androgen receptor gene polyglycine repeat polymorphism is associated with memory performance in healthy Chinese individuals
- Influence of TRPV3 mutation on hair growth cycle in mice
- UNITY INOVA NMR Spectrometer Systems Installation Planning
- Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V
- The Paradox of p53: What, How, and Why?
- What does acne genetics teach us about disease pathogenesis?
- Reproductive dysfunction in women with epilepsy: recommendations for evaluation and management
- Molecular Evolution and Protein Structure Variation of Dkk Family
- The Rotterdam Study: 2016 objectives and design update
- A powerful method for pleiotropic analysis under composite null hypothesis identifies novel shared loci between Type 2 Diabetes and Prostate Cancer
- 9. Immunology and Genetics
- EFFECT OF THYROID DYSFUNCTION ON BODY MASS INDEX AND HORMONAL IMBALANCE IN WOMEN HAVING POLYCYSTIC OVARIAN SYNDROME