research CRISPR/Cas9-mediated Generation ofCOL7A1-deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa
Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
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research Genetic correlation by pedigree analysis in patients diagnosed with PCOS as per Rotterdam’s criteria
PCOS is likely inherited in families, increasing risk for first-degree relatives.
research Painful thickened skin on the soles of the feet
The man has a genetic skin condition called pachyonychia congenita.
research Molecular Aspects of Polycystic Ovarian Syndrome in Female Population in Karnataka at the Southwestern Region of India
PCOS in Karnataka is influenced by genetics, lifestyle, obesity, and diabetes.
research Identification of the keratin-associated protein 13-3 (KAP13-3) gene in sheep
The KAP13-3 gene in sheep affects wool quality by influencing keratin assembly.
research The transcriptional repressor CDP (Cutl1) is essential for epithelial cell differentiation of the lung and the hair follicle
CDP is crucial for lung and hair follicle cell development.
research 186 Dissecting the role of the common neurotrophin receptor CD271 in the skin: generation and characterization of a novel mouse model with keratinocyte-specific conditional deletion
Deleting the CD271 gene in mouse skin cells leads to disorganized skin and increased hair growth, suggesting CD271 is important for skin health.
research Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria
Pegvaliase is recommended for treating adults with phenylketonuria.
research JAK Family Expression and Therapeutic Implications in Primary Cicatricial Alopecias
JAK inhibitors may help treat certain types of hair loss, but more research is needed.
research Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
research Induction of hair growth by skin irritants and its relation to skin protein kinase C isoforms
Skin irritants can promote hair growth by affecting specific skin proteins.
research Steroidogenic Factor-1 Lineage Origin of Skin Lesions in Carney Complex Syndrome
Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
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 Single‐center study to determine the safety and efficacy of CT‐707 in Chinese patients with advanced anaplastic lymphoma kinase‐rearranged non‐small‐cell lung cancer
CT-707 is effective and safe for treating certain Chinese lung cancer patients.
research Haplotype analysis ofVEGFgene polymorphisms in polycystic ovary syndrome
Certain gene variations are found in people with polycystic ovary syndrome.
research Transgenic HPV11-E2 protein modulates URR activity in vivo
The E2 protein affects gene activity in hair follicles of mice.
research Association between VEGF gene polymorphisms (11 sites) and polycystic ovary syndrome risk
Certain changes in the VEGF gene can increase or decrease the risk of polycystic ovary syndrome.
research EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
research 474 Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility
Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
research Causal associations between plasma proteins and prostate cancer: a Proteome-Wide Mendelian Randomization
Certain plasma proteins are linked to prostate cancer risk and could help in early detection and treatment.
research The Tissue-dependent Keratin 19 Gene Transcription Is Regulated by GKLF/KLF4 and Sp1
GKLF/KLF4 and Sp1 control Keratin 19 gene activity, influencing cancer-related changes.
research PIK3CA gain-of-function mutation in Schwann cells leads to severe neuropathy and aerobic glycolysis through a non-cell autonomous effect
A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.
research A group of type I keratin genes on human chromosome 17: characterization and expression.
Only one K16 gene on chromosome 17 makes a functional keratin protein.
research The G-Protein Couple Receptor Kinase 2 (GRK2) Orchestrates Hair Follicle Homeostasis
GRK2 is essential for healthy hair follicle function, and its absence can lead to hair loss and cysts.
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 Expression of 11β-hydroxysteroid dehydrogenase type 1 in visceral and subcutaneous adipose tissues of patients with polycystic ovary syndrome is associated with adiposity
Increased HSD11B1 enzyme expression is linked to higher body fat and insulin resistance.
research THE INSUSCEPTIBILITY OF C57 BLACK MICE TO POST-IRRADIATION LEUKEMIA, SOME UNREPORTED POST-IRRADIATION CHANGES
CXCL7 is essential for muscle repair by aiding early neutrophil infiltration.
research Placental mRNA Expression of Neurokinin B Is Increased in PCOS Pregnancies with Female Offspring
Pregnant women with PCOS have higher levels of Neurokinin B in the placenta, especially with female babies.
research Association between the D19S884 marker at the insulin receptor gene locus and polycystic ovary syndrome
There's no significant link between the D19S884 marker at the insulin receptor gene and polycystic ovary syndrome.
research PRC 2 preserves intestinal progenitors and restricts secretory lineage commitment
PRC2 is essential for maintaining intestinal cell balance and aiding regeneration after damage.