research Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients
Arab APS1 patients have unique and recurrent AIRE gene mutations.
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research A Role for Steroid 5 alpha-reductase 1 in Vascular Remodelling During Endometrial Decidualisation
The enzyme 5α-reductase is important for proper blood vessel development during the fertility-related transformation of the uterus lining.
research 972 The ATP-dependent chromatin remodeler BRG1 controls epidermal keratinocytes migration during human cutaneous wound healing
BRG1 is essential for skin cells to move and heal wounds properly.
research De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
research Pharmacological Inhibition of DGAT1 Induces Sebaceous Gland Atrophy in Mouse and Dog Skin While Overt Alopecia Is Restricted to the Mouse
Blocking DGAT1 reduces oil gland size in mice and dogs, but only mice experience hair loss.
research Increased frequency of the DI genotype of the angiotensin-I converting enzyme and association of the II genotype with insulin resistance in polycystic ovary syndrome
The study suggests certain ACE gene variations are more common in women with PCOS and may be linked to increased insulin resistance.
research 880 Gasdermin A3-mediated cell death causes niche collapse and precocious activation of hair follicle stem cells
Gasdermin A3 causes hair follicle stem cells to activate too early, leading to hair loss.
research The ZIP7 Gene (Slc39a7) Encodes a Zinc Transporter Involved in Zinc Homeostasis of the Golgi Apparatus
The ZIP7 gene helps control zinc levels in cells by moving zinc from the Golgi apparatus to the cytoplasm.
research Pure Hair‐Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum
research Defolliculated (Dfl): A Dominant Mouse Mutation Leading to Poor Sebaceous Gland Differentiation and Total Elimination of Pelage Follicles
The Dfl mutation in mice causes poor sebaceous gland function and complete hair loss.
research Les cançons de l'escarni
Agaricus bisporus β-Glucan particles could effectively treat cervical cancer and offer antimicrobial and antioxidant benefits.
research Enrichment and Characterization of Human Dermal Stem/Progenitor Cells by Intracellular Granularity
Scientists identified a unique type of human skin stem cell that could help with tissue repair.
research Cloning and Characterization of a Mouse Type I Hair Keratin cDNA
research Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KATPChannel Mutations in Intact Cells
Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
research Abstract C4: Sp2: A regulator of stem cell differentiation and tumorigenesis
Over-expression of Sp2 can lead to cancer by preventing proper stem cell differentiation.
research Analysis of differentially expressed genes of dermal papillae cells with aggregative behavior in uitro
Certain genes help dermal papillae cells in hair follicles grow and group together.
research Decision letter: 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 in mice led to rapid tumor growth despite chromosomal instability.
research Sequence Analysis of mtDNA NADH-Ubiquinone Oxidoreductase Chain 1 Gene (ND1) of the Asian Black Bear Sichuan Subspecies (Ursus thibetanus mupinensis)
The ND1 gene of the Asian black bear Sichuan subspecies is similar to other bear species.
research Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review
A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
research A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
research Woodhouse-Sakati Syndrome: The New Genetic Variant of DCAF17 In 2 Adult Sisters
A new genetic variant of Woodhouse-Sakati syndrome was found in two adult sisters in Russia.
research The possible implication of the S250C variant of the autoimmune regulator protein in a patient with autoimmunity and immunodeficiency: in silico analysis suggests a molecular pathogenic mechanism for the variant
The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
research AKR1D1 regulates glucocorticoid availability and glucocorticoid receptor activation in human hepatoma cells
AKR1D1 controls glucocorticoid levels and receptor activity in liver cells.
research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research Characterizing enteric neurons in dopamine transporter (DAT)‐Cre reporter mice reveals dopaminergic subtypes with dual‐transmitter content
Dopaminergic neurons in the gut have diverse subtypes with different neurotransmitter contents.
research Modulation of glucocorticoid action and the treatment of type-2 diabetes
Targeting glucocorticoid action might help treat type-2 diabetes, but human trials are needed.
research The Function of LPR1 is Controlled by an Element in the Promoter and is Independent of SUMO E3 Ligase SIZ1 in Response to Low Pi Stress in Arabidopsis thaliana
LPR1 regulates root growth under low phosphate stress independently of SIZ1 in Arabidopsis thaliana.
research Dendritic Cell–Associated MARCKSL1 Regulates Fibroblast Differentiation During Wound Healing
MARCKSL1 is important for wound healing and could be a target to reduce scarring.
research Targeted Inactivation of Gh/Tissue Transglutaminase II
Tgm2 helps stabilize dying cells and aids fibroblast attachment to the extracellular matrix.
research SUN-287 A Case of Ectopic Neurohypophysis
The patient with a misplaced pituitary gland and interrupted pituitary stalk is being treated with hormone replacement.