research Intragenic Deletion in the Desmoglein 4 Gene Underlies the Skin Phenotype in the Iffa Credo Hairless Rat
A gene deletion causes the "hairless" trait in Iffa Credo rats.
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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 Deletions in the KAP6-1 Gene Are Associated with Fiber Traits in Cashmere-Producing Goats
Certain changes in the KAP6-1 gene affect the thickness and length of cashmere goat fibers.
research Deletion of the MAD2L1 Spindle Assembly Checkpoint Gene Is Tolerated in Mouse Models of Acute T-Cell Lymphoma and Hepatocellular Carcinoma
Deleting the MAD2L1 gene is tolerated in certain mouse cancer models.
research Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
research A Spontaneous Deletion Within the Desmoglein 3 Extracellular Domain of Mice Results in Hypomorphic Protein Expression, Immunodeficiency, and a Wasting Disease Phenotype
A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
research Lipoatrophy and Severe Metabolic Disturbance in Mice with Fat-Specific Deletion of PPARγ
Mice lacking the PPARγ gene in their fat cells had almost no fat tissue, severe metabolic problems, and abnormal development of other fat-related tissues.
research Abstracts From The 55th European Society Of Human Genetics Conference: E-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
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 Ancient Genomes Reveal the Evolutionary History and Origin of Cashmere-Producing Goats in China
Ancient Chinese goats evolved cashmere-producing traits due to selective breeding, particularly in genes affecting hair growth.
research Tuning Wnt Signals for More or Fewer Hairs
Changing Wnt signaling can lead to more or less hair growth and might help treat hair loss and skin conditions.
research The Role of Glucosylceramides in Keratinocyte Differentiation and Epidermal Barrier Function
Glucosylceramides are essential for healthy skin and proper wound healing.
research Accelerated Endothelial to Mesenchymal Transition Increased Fibrosis via Deleting Notch Signaling in Wound Vasculature
Disrupting Notch signaling in blood vessels increases scarring during wound healing in mice.
research Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency
A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
research Steroid-Resistant Nephrotic Syndrome Associated with Steroid Sulfatase Deficiency—X-Linked Recessive Ichthyosis: A Case Report and Review of Literature
A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
research Combined Deletion of the Vitamin D Receptor and Calcium-Sensing Receptor Delays Wound Re-Epithelialization
Removing vitamin D and calcium receptors in mice skin cells slows down skin wound healing.
research Adrenal 21-Hydroxylase Gene Mutations in Slovenian Hyperandrogenic Women: Evaluation of Corticotrophin Stimulation and HLA Polymorphisms in Screening for Carrier Status
The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.
research Candidate SNP Markers of Reproductive Potential Predicted by Significant Change in Affinity of TATA-Binding Protein for Human Gene Promoters
Certain genetic markers linked to reproductive potential were identified by their impact on a protein's ability to bind to genes.
research Timing of Expression of the Core Clock Gene Bmal1 Influences Its Effects on Aging and Survival
The timing of when the gene Bmal1 is active affects aging and survival, with its absence during development, not adulthood, leading to premature aging.
research New Case of Trichorhinophalangeal Syndrome-Like Phenotype with a De Novo t(2;8)(p16.1;q23.3) Translocation Which Does Not Disrupt the TRPS1 Gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research Birt-Hogg-Dubé Syndrome: From Gene Discovery to Molecularly Targeted Therapies
New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
research Molecular Genetic Characteristics of the Hoxc13 Gene and Association Analysis of Wool Traits
Hoxc13 gene affects wool length in Gansu alpine fine-wool sheep.
research Roles of Msx and Dlx Homeoproteins in Vertebrate Development
Msx and Dlx genes are crucial for development, controlling cell behaviors like growth and differentiation through their roles as gene regulators.
research Recent Advances in Neuropeptide-Related Omics and Gene Editing: Spotlight on NPY and Somatostatin and Their Roles in Growth and Food Intake of Fish
New tools show that in fish, NPY increases feeding and somatostatin decreases it.
research The Development of Several Organs and Appendages Is Impaired in Mice Lacking Sp6
Mice without the Sp6 gene have problems developing several body parts, including hair, teeth, limbs, and lungs.
research Autosomal Recessive Monilethrix: Novel Variants of the DSG4 Gene in Three Chinese Families
New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
research Genetic Screening of Non-Classic CAH Females with Hyperandrogenemia Identifies a Novel CYP11B1 Gene Mutation
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
research Regulation of Mitochondrial Oxidative Metabolism by Tumor Suppressor FLCN
The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
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 Carriers of 21-Hydroxylase Deficiency Are Not at Increased Risk for Hyperandrogenism
People who carry the 21-Hydroxylase Deficiency gene are not more likely to have excessive male hormone levels.