research Two Mutations at KRT74 and EDAR Synergistically Drive the Fine-Wool Production in Chinese Sheep
Two mutations in KRT74 and EDAR genes cause sheep to have finer wool.
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research Advances in Genetic and Molecular Understanding of Omenn Syndrome: Implications for the Future
Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
research Clinical Impact of Molecular Diagnostics in Endocrinology
Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
research Hutchinson-Gilford Progeria Syndrome: Current Status and Prospects for Gene Therapy Treatment
Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
research The Mouse Hairy Ears Mutation Exhibits an Extended Growth (Anagen) Phase in Hair Follicles and Altered Hoxc Gene Expression in the Ears
The mouse hairy ears mutation causes longer ear hair due to changes in gene expression.
research Sebaceous Gland Abnormalities in Fatty Acyl CoA Reductase 2 (Far2) Null Mice Result in Primary Cicatricial Alopecia
Deleting the Far2 gene in mice causes sebaceous gland issues and patchy hair loss.
research Epstein-Barr Virus Associated with High-Grade B-Cell Lymphoma in Severe Combined Immunodeficiency
A boy with severe immune deficiency and Epstein-Barr virus died from high-grade B-cell lymphoma.
research Tracing the Cellular Origin of Cancer
Understanding where cancer cells come from helps create better prevention and treatment methods.
research The Disrupted Balance Between Hair Follicles and Sebaceous Glands in Hoxc13-Ablated Rabbits
Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
research An Update on Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
research De Novo Single-Nucleotide and Copy Number Variation in Discordant Monozygotic Twins Reveals Disease-Related Genes
The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
research Endocrine Disorders in Woodhouse-Sakati Syndrome: A Systematic Review of the Literature
Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
research Histopathological and Ultrastructural Study of Ectodermal Dysplasia/Skin Fragility Syndrome
The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.
research Protoporphyrin IX: The Good, the Bad, and the Ugly
Protoporphyrin IX is useful in cancer treatment but can cause health problems if not properly regulated.
research Epithelial Integrity Is Maintained by a Matriptase-Dependent Proteolytic Pathway
Matriptase is crucial for keeping epithelial tissues healthy and functioning properly.
research The Disintegrin/Metalloproteinase Adam10 Is Essential for Epidermal Integrity and Notch-Mediated Signaling
Adam10 enzyme is crucial for healthy skin and proper Notch signaling.
research Immune Deficiency-Related Enteropathy-Lymphocytopenia-Alopecia Syndrome Results from Tetratricopeptide Repeat Domain 7A Deficiency
A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
research Primary Generalized Glucocorticoid Resistance And Hypersensitivity
The conclusion is that genetic changes in the glucocorticoid receptor can lead to conditions affecting stress response, immunity, and metabolism, requiring personalized treatment.
research Chrousos Syndrome: From Molecular Pathogenesis to Therapeutic Management
The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.
research Apoptotic Cells Represent a Dynamic Stem Cell Niche Governing Proliferation and Tissue Regeneration
Dying cells can help with faster healing and new hair growth by releasing a growth-promoting molecule.
research Morphogenesis and Maintenance of the 3D Thymic Medulla and Prevention of Nude Skin Phenotype Require FoxN1 in Pre- and Post-Natal K14 Epithelium
FoxN1 gene is essential for proper thymus structure and preventing hair loss.
research Genetics of Structural Hair Disorders
The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
research Secretory Phospholipase A2-IIA Overexpressing Mice Exhibit Cyclic Alopecia Mediated Through Aberrant Hair Shaft Differentiation and Impaired Wound Healing Response
Mice with too much sPLA₂-IIA have hair loss and poor wound healing due to abnormal hair growth and stem cell depletion.
research Spatial Gene Profiling in the Ischemic Heart
A new technology showed that the SOX9 gene might control heart scar formation after injury, suggesting new treatment possibilities.
research Cardiac Outflow Tract Septation Defects in a DiGeorge Syndrome Model Respond to Minoxidil Treatment
Minoxidil treatment improves heart defects in a DiGeorge syndrome model.
research A Direct Link Between Prss53, Hair Curvature, and Skeletal Dysplasia
The gene Prss53 affects hair shape and bone development in rabbits.
research Beta-Catenin Activity in the Dermal Papilla Regulates Morphogenesis and Regeneration of Hair
β-catenin in the dermal papilla is crucial for normal hair growth and repair.
research Regulatory T Cells: The Many Faces of Foxp3
Foxp3 is crucial for regulatory T cell function, and targeting these cells may help treat immune disorders.
research FOXN1: A Master Regulator Gene of Thymic Epithelial Development Program
The FOXN1 gene is crucial for developing immune cells and preventing immune disorders.
research 5-Alpha Reductase Deficiency
5-alpha reductase deficiency leads to male sexual development issues and treatments like finasteride help with prostate enlargement and hair loss.