research Novel Splicing-Site Mutation in DCAF17 Gene Causing Woodhouse-Sakati Syndrome in a Large Consanguineous Family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
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research Clinical Snippets: Melanoma Risk Prediction, Monilethrix Mutation, Keratitis-Ichthyosis-Deafness Syndrome, Skin Wrinkling and Lung Aging, Oxidative Stress in Androgenetic Alopecia
Melanoma risk tools need improvement, a gene mutation causes a hair disorder that might be treated by managing cell stress, a potential therapy for a skin-ear disorder involves blocking cell channels, skin wrinkling may indicate lung aging regardless of smoking, and oxidative stress might contribute to common baldness.
research Characterization of a Mouse Scube3 Reporter Line
Mouse Scube3 affects teeth, tongue, vibrissae, and eye development, but not facial structure or limb growth.
research FOXN1 Deficient Nude Severe Combined Immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
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 Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum
Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
research Clinical Snippets: Insights into Dermatological Health and Disease
Melanoma risk tools need improvement, certain gene mutations cause skin diseases and could be treated by targeting those mutations, skin wrinkling may relate to lung aging due to genetic factors, and oxidative stress affects hair loss but can be reduced in low oxygen.
research Lymphoid Enhancer-Binding Factor-1 Interacts with the DNA-Binding Domain of the Vitamin D Receptor
LEF1 interacts with Vitamin D Receptor, affecting hair follicle regeneration and this could be linked to hair loss conditions.
research Aromatase Deficiency in a Male Patient: Case Report and Literature Review
A male with aromatase deficiency improved bone health with estradiol treatment.
research Cholesterol Homeostasis: Links to Hair Follicle Biology and Hair Disorders
Cholesterol balance is important for hair health, and problems with it can lead to hair loss conditions.
research Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
Lack of cystatin M/E causes thin hair and dry skin.
research Serotoninergic And Melatoninergic Systems Are Fully Expressed In Human Skin
Human skin can make serotonin and melatonin.
research WNT10A Mutation Causes Ectodermal Dysplasia by Impairing Progenitor Cell Proliferation and KLF4-Mediated Differentiation
A WNT10A gene mutation leads to ectodermal dysplasia by disrupting cell growth and differentiation.
research Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency
Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
research The Naked Truth: Sphynx and Devon Rex Cat Breed Mutations in KRT71
Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
research Tumor Mapping in Two Large Multigenerational Families With CYLD Mutations
CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
research Autoimmune Polyendocrine Syndrome Type 1: An Italian Survey on 158 Patients
APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
research The Molecular Basis of Androgen Insensitivity
Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.
research The Genetics of Human Skin Disease
Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
research The Role of the SLC39A Family of Zinc Transporters in Zinc Homeostasis in Skin
Certain zinc transporters are essential for healthy skin and managing zinc in the body could help treat skin problems.
research FOXN1 Italian Founder Mutation in Indian Family: Implications in Prenatal Diagnosis
A rare genetic mutation found in an Indian family can be detected through prenatal screening.
research Ptosis in Childhood: Causes, Clinical Presentations, and Management
Childhood ptosis can vary from a minor cosmetic issue to a serious condition and may signal other health problems.
research Recent Advances in Congenital Ichthyoses
New genes linked to ichthyosis were found, but there's still no cure; treatment options are improving.
research Genome-Wide Association Study Identifies Variants Associated With Hair Length in Brangus Cattle
Scientists found genes linked to hair length in Brangus cattle that could help breed heat-tolerant cattle.
research Expression and Functional Relevance of Melatonin Receptors in Hair Follicle Biology
Melatonin receptors in hair follicles help regulate hair growth and could treat hair loss.
research Smoothened Receptor Inhibitor Vismodegib for the Treatment of Basal Cell Carcinoma: A Retrospective Analysis of Efficacy and Side Effects
Vismodegib is effective for basal cell carcinoma but has severe side effects.
research Disease Causing Homozygous Variants in the Human Hairless Gene
New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
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 Adrenal Cortex Tumors and Hyperplasias
Most adrenal cortex tumors are benign and non-secreting, but proper diagnosis and treatment are important due to the rare possibility of cancer.