research Identification of Two Additional Novel Mutations in the AR Gene Associated with Severe Forms of Androgen Insensitivity Syndrome
Two new mutations in the AR gene linked to severe androgen insensitivity were found.
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research Recent Advances in the Molecular Mechanisms Causing Primary Generalized Glucocorticoid Resistance
Mutations in the NR3C1 gene cause a rare condition that affects hormone signaling and can lead to various symptoms, with dexamethasone as a treatment option.
research Resequencing and Signatures of Selective Scans Point to Candidate Genetic Variants for Hair Length Traits in Long-Haired and Normal-Haired Tianzhu White Yak
The research found specific genes that may cause longer hair in Tianzhu White Yak.
research Loss-Of-Function of Endothelin Receptor Type A Results in Oro-Oto-Cardiac Syndrome
A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
research Wool Keratin-Associated Protein Genes in Sheep: A Review
Understanding wool keratin-associated proteins in sheep can help improve wool quality through selective breeding.
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 Novel Insights to Assess Climate Resilience in Goats Using a Holistic Approach of Skin-Based Advanced NGS Technologies
Heat stress changes goats' skin and hair at the microscopic level and affects their genes and skin bacteria.
research Gene Detection in a Family With Monilethrix and Treatment With 5% Topical Minoxidil
5% topical minoxidil improves hair density and quality in monilethrix patients.
research Identification of a Novel Heterozygous Mutation in the First Japanese Case of Marie Unna Hereditary Hypotrichosis
Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
research Sox21 Regulates Anapc10 Expression and Determines the Fate of Ectodermal Organs
Sox21 is crucial for tooth development and enamel formation by preventing cells from changing into a different type.
research The Retarded Hair Growth Mutation in Mice Is an Allele of Ornithine Aminotransferase
The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
research Biochemical Evidence That Small Proline-Rich Proteins and Trichohyalin Function in Epithelia by Modulation of the Biomechanical Properties of Their Cornified Cell Envelopes
Small proline-rich proteins and trichohyalin help make epithelial tissues tougher and more flexible.
research Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed
The unique coat of lykoi cats is likely caused by new variants in the Hairless gene.
research Genetic Association of Wool Quality Characteristics in United States Rambouillet Sheep
Certain genetic markers linked to wool quality in Rambouillet sheep were identified, which can guide better breeding choices.
research Drug Repurposing: A Promising Approach for Patients With Angina and Non-Obstructive Coronary Artery Disease (ANOCA)
Using existing drugs for new purposes could be a cost-effective way to treat chest pain and non-clogged heart arteries, with some drugs for lung blood pressure showing promise but needing more testing.
research Resequencing Analyses Revealed Genetic Diversity and Selection Signatures During Rabbit Breeding and Improvement
Genetic analysis of rabbits identified key genes for traits like coat color, body size, and fertility.
research DNA Damage, Checkpoint Responses, and Cell Cycle Control in Aging Stem Cells
Maintaining DNA integrity in stem cells is crucial to prevent aging and cancer.
research Comprehensive Whole-Genome Resequencing Unveils Genetic Diversity and Selective Signatures of the Xiangdong Black Goat
Xiangdong black goats have moderate genetic diversity, minimal inbreeding, and important genes for reproduction, immunity, and other traits.
research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets (HVDRR): Clinical Heterogeneity and Long-Term Efficacious Management of Eight Patients from Four Unrelated Arab Families with a Loss of Function VDR Mutation
Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
research Copy Number Variation Regions in Nellore Cattle: Evidence of Environmental Adaptation
Nellore cattle have genetic variations linked to their adaptation to tropical environments.
research Detection of Circular RNA Expression and Related Quantitative Trait Loci in the Human Dorsolateral Prefrontal Cortex
Researchers found that certain RNA circles in the brain are linked to disease risk, but their exact role in disease is still unknown.
research Haplotypes Spanning Centromeric Regions Reveal Persistence of Large Blocks of Archaic DNA
Ancient DNA blocks are still present in human genomes, possibly due to advantages they provide.
research Defining the Identity of Mouse Embryonic Dermal Fibroblasts
Researchers identified specific genes that are important for mouse skin cell development and healing.
research Twins With Psychiatric Features and a Nonsense HRAS Variant Affecting Transcript Processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research Characterization of Mouse Profilaggrin: Evidence for Nuclear Engulfment and Translocation of the Profilaggrin B-Domain During Epidermal Differentiation
Mouse profilaggrin helps in skin cell differentiation and may be involved in calcium signaling.
research Pmg-1 and Pmg-2 Constitute a Novel Family of KAP Genes Differentially Expressed During Skin and Mammary Gland Development
Pmg-1 and Pmg-2 are new genes important for skin and mammary gland development.
research Polymorphisms of FST Gene and Their Association with Wool Quality Traits in Chinese Merino Sheep
Certain genetic variations in the FST gene are linked to better wool quality in Chinese Merino sheep.
research Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of Two Iranian Siblings
Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
research Autofluorescence as a Signal to Sort Developing Glandular Trichomes by Flow Cytometry
Autofluorescence can sort plant cells without labeling.
research Analysis of Gene Expression Patterns and Levels in Maize Hybrids and Their Parents
Maize hybrids show better early growth due to complex gene interactions from their parent strains.