research Analysis of the function of ADAM17 in iRhom2 curly-bare and tylosis with esophageal cancer mutant mice
Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
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300-330 / 1000+ results research Steroid 17β-hydroxysteroid dehydrogenase deficiency in man: An inherited form of male pseudohermaphroditism
Affected males are born with ambiguous genitalia, raised as females, but develop male traits at puberty due to enzyme deficiency.
research KRT16 wt Allele
Mutations in the KRT16 gene can cause skin and nail disorders.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research The Mask Mutation Identifies TMPRSS6 as an Essential Suppressor of Hepcidin Gene Expression, Required for Normal Uptake of Dietary Iron.
TMPRSS6 is crucial for controlling hepcidin and normal iron absorption.
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 Update of 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 Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
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 Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research Finasteride Induces Epigenetic Alteration of TMPRss2 Gene Expression: A Potential role in Severe Acute Respiratory Syndrome-Corona Virus-2 Inhibition
Finasteride may help reduce COVID-19 infection by altering a key gene.
research The Transcriptional Co-Activator cAMP Response Element-Binding Protein-Binding Protein Is Expressed in Prostate Cancer and Enhances Androgen- and Anti-Androgen-Induced Androgen Receptor Function
A protein called CBP is found in prostate cancer and can increase the effectiveness of certain prostate cancer treatments.
research Markers to Evaluate the Quality and Self-Renewing Potential of Engineered Human Skin Substitutes In Vitro and after Transplantation
Cytokeratin 19 and cytokeratin 15 are key markers for monitoring the quality and self-renewing potential of engineered skin.
research Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature
New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
research Candidate genes of SARS-CoV-2 gender susceptibility
Men are more affected by COVID-19 due to differences in immune responses and protein expression.
research Analysis of hidradenitis suppurativa–linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophages
The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Common Forms of Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is mainly caused by enzyme deficiencies, leading to varying symptoms like hormone imbalances and physical changes.
research Poly(rC) binding protein 2 acts as a negative regulator of IRES-mediated translation of Hr mRNA
A protein called PCBP2 controls the production of a hair growth protein by interacting with its genetic message and is linked to hair loss when this control is disrupted.
research 51826 PRO-C22 - A Novel Serological Biomarker of Tissue Damage is Associated with Disease Severity, Disease Activity, and Systemic Inflammation in Patients with Hidradenitis Suppurativa
PRO-C22 can help diagnose and monitor the severity of hidradenitis suppurativa.
research Expression of steroidogenic enzymes in human sebaceous glands
Human sebaceous glands contain enzymes that affect androgen production and may influence sebum production and acne.
research Induction of synapse associated protein 102 expression in cyclosporin A-stimulated hair growth
Cyclosporin A promotes hair growth in mice and increases a protein linked to hair growth, but it may not work the same way in humans.
research Increased Expression of Zyxin and Its Potential Function in Androgenetic Alopecia
Inhibiting Zyxin may help treat androgenetic alopecia by promoting hair growth.
research 1367 Inhibition of the mitochondrial pyruvate carrier promotes ATF4–dependent stress responsive metabolic rewiring and cell cycle arrest in the human hair follicle
Blocking a key energy pathway in human hair follicles can trigger stress responses that stop cell growth.
research 507 Trial to investigate the role of ATP-sensitive potassium channels (KATPc) in dermal papilla cells (DPCs)
ATP-sensitive potassium channels are important for hair growth.
research The inconsistent regulation of HOXC13 on different keratins and the regulation mechanism on HOXC13 in cashmere goat (Capra hircus)
The HOXC13 gene affects different hair proteins in cashmere goats in varied ways and is controlled by a feedback loop and other factors.
research Stereocontrolled synthesis of all eight stereoisomers of the putative anti-androgen cyoctol
Scientists made all eight versions of a compound called cyoctol, but found it's not an anti-androgen and it fully breaks down in the skin.
research Polymorphism of Exon V of prolactin gene and its association with Cashmere traits in Changthangi Pashmina goats
The prolactin gene polymorphism doesn't affect cashmere quality in these goats.
research Nonclassic adrenal hyperplasia
Nonclassic adrenal hyperplasia is a genetic condition that can cause early puberty and fertility problems, treated with specific steroids.
research Collagen triple helix repeat containing-1 promotes functional recovery of sweat glands by inducing adjacent microvascular network reconstruction in vivo
CTHRC1 helps sweat glands recover by rebuilding nearby blood vessels.