research Hypomorphic Mutation in the Hairless Gene Accelerates Pruritic Atopic Skin Caused by Feeding a Special Diet to Mice
A mutation in the hairless gene speeds up severe itchy skin in mice on a special diet.
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research Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes
Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
research Genotype-Phenotype Correlation in Boys with X-Linked Hypohidrotic Ectodermal Dysplasia
Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
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 A Polygenic Mouse Model of Psoriasiform Skin Disease in CD18-Deficient Mice
CD18-deficient mice developed psoriasis-like skin disease, useful for studying inflammatory skin disorders.
research An Essential Role for RXRα in the Development of Th2 Responses
RXRα is crucial for proper immune response and links diet to immune function.
research Alopecia in a Viable Phospholipase C Delta 1 and Phospholipase C Delta 3 Double Mutant
Mutations in Plcd1 and Plcd3 together cause severe hair loss in mice.
research Human FOXN1 Deficiency Is Associated with Alpha Beta Double-Negative and FoxP3 Positive T-Cell Expansions That Are Distinctly Modulated upon Thymic Transplantation
Thymic transplantation normalized some T-cells but not others, maintaining immune function.
research Unraveling the Link Between Ectodermal Disorders and Primary Immunodeficiencies
Skin abnormalities can indicate immunodeficiency due to shared origins with the immune system.
research Ectodysplasin Research: Where to Next?
Future research on ectodysplasin should explore its role in diseases, stem cells, and evolution, and continue developing treatments for genetic disorders like hypohidrotic ectodermal dysplasia.
research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
research Scleromyxedema With Neurologic Involvement: Therapy With Intravenous Immunoglobulin
Umbilical cord blood transplantation improved the boy's symptoms despite complications.
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 Deletion of the Developmentally Essential Gene ATR in Adult Mice Leads to Age-Related Phenotypes and Stem Cell Loss
Removing the ATR gene in adult mice causes rapid aging and stem cell loss.
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 Formation of the Cornified Envelope
The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.
research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
research Effects of Pre- and Post-Pubertal Dihydrotestosterone Treatment on Penile Length in 5α-Reductase Type 2 Deficiency
Dihydrotestosterone treatment can help penis growth in boys with 5α-reductase deficiency but doesn't fully normalize size after puberty.
research Eruptive Vellus Hair Cysts Treated With Lactic Acid: Case Report and Review of the Literature
Lactic acid cream can help improve skin bumps known as eruptive vellus hair cysts.
research Tissue Resident and Follicular Treg Cell Differentiation Is Regulated by CRAC Channels
CRAC channels are crucial for the development and function of specialized immune cells, preventing severe inflammation and autoimmune diseases.
research Genetic Basis of Skin Appendage Development
Hair, teeth, and mammary glands develop similarly at first but use different genes later.
research Laminin-511 Is an Epithelial Message Promoting Dermal Papilla Development and Function During Early Hair Morphogenesis
Laminin-511 is crucial for early hair growth and maintaining important hair development signals.
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 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 PNKP Is Required for Maintaining the Integrity of Progenitor Cell Populations in Adult Mice
PNKP is essential for keeping adult mouse progenitor cells healthy and growing normally.
research A Two-Phase Model of Skin Epidermal Stratification: Lessons from Centrosomes
Removing centrosomes from skin cells leads to thinner skin and stops hair growth, but does not greatly affect skin cell differentiation.
research Cutaneous Retinoic Acid Levels Determine Hair Follicle Development And Downgrowth
The right amount of retinoic acid is essential for normal hair growth and development.
research Whole Blood Transcriptome Profiling Identifies Candidate Genes Associated With Alopecia in Male Giant Pandas
Researchers found genes linked to hair loss in male giant pandas.
research Clinical and Molecular Features in a Cohort of Middle Eastern Patients With Epidermolysis Bullosa
Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
research MicroRNA Control of Signal Transduction
MicroRNAs are crucial in controlling cell signaling, affecting cancer and tissue regeneration.