research A nonsense variant in KRT31 is associated with autosomal-dominant monilethrix
A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
Search
for
Sort by
Research
390-420 / 1000+ results research RSPO1, a potent inducer of pancreatic β cell neogenesis
RSPO1 could help create new diabetes treatments by increasing pancreatic β cells.
research Conditional Knockout in Mice Reveals the Critical Roles of Ppp2ca in Epidermis Development
PP2Acα is essential for proper hair and skin development.
research Targeting cardiac hypertrophy through a nuclear co‐repressor
Targeting NCoR1 can help treat heart enlargement and dysfunction.
research Expression, characterization, and structural analysis of human liver delta4-3-ketosteroid 5beta-reductase (AKR1D1) and its disease-related mutant P133R
The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.
research Integrated Transcriptome Analysis of lncRNA, miRNA, and mRNA Reveals key Regulatory Modules for Polycystic Ovary Syndrome
research A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
A new mutation in the KRT86 gene causes monilethrix in a Han family.
research Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
research Polyamine Oxidase Expression Is Downregulated by 17β-Estradiol via Estrogen Receptor 2 in Human MCF-7 Breast Cancer Cells
17β-estradiol lowers polyamine oxidase levels in breast cancer cells through estrogen receptor 2.
research Polydeoxyribonucleotide (PDRN) salmon sebagai agen anti penuaan
PDRN from salmon may slow skin aging by improving skin quality and reducing inflammation.
research Evolution, classification, structure, and functional diversification of steroid 5α-reductase family in eukaryotes
Steroid 5α-reductase evolved from protists and diversified in eukaryotes, with specific roles in mammals and plants.
research Protein kinase C is a key target for attenuation of Leigh syndrome by rapamycin
Rapamycin may help treat Leigh syndrome by targeting protein kinase C.
research Sex dependent influence of a functional polymorphism in steroid 5‐α‐reductase type 2 (SRD5A2) on post‐traumatic stress symptoms
SRD5A2 gene variations affect PTSD symptoms differently in males and females.
research Size Polymorphisms in the Human Ultrahigh Sulfur Hair Keratin-Associated Protein 4, KAP4, Gene Family
The study found that variations in hair protein genes are likely due to evolutionary deletions or duplications.
research Molecular evolution of the keratin associated protein gene family in mammals, role in the evolution of mammalian hair (vol 8, pg 241, 2008)
research BG01 Confirming small nuclear ribonucleoprotein polypeptide E as a cause of nonsyndromic hypotrichosis
The protein called small nuclear ribonucleoprotein polypeptide E is identified as a cause of a type of hair loss without other symptoms.
research Expression Level of Prostaglandin D2 Receptor 2 Regulates Hair Regression
Higher levels of the DP2 receptor may lead to hair loss.
research Differential expression of steroid 5α-reductase isozymes and association with disease severity and angiogenic genes predict their biological role in prostate cancer
SRD5A1 is crucial in advanced prostate cancer, and blocking both SRD5A1 and SRD5A2 is more effective than targeting SRD5A2 alone.
research BAF200 Is Required for Heart Morphogenesis and Coronary Artery Development
BAF200 is essential for proper heart and coronary artery formation.
research Cytoprotective effects of paeoniflorin are associated with translocator protein 18 kDa
Paeoniflorin protects brain cells by involving a specific protein and neurosteroids.
research Pitx2, a β-catenin-regulated transcription factor, regulates the differentiation of outer root sheath cells cultured in vitro
Pitx2 helps outer root sheath cells differentiate but can't start hair growth on its own.
research Structural & functional studies of L-PGDS and SMPDL3A enzymes in lipid signaling family
L-PGDS has specific binding sites for its functions and could help in drug delivery system design.
![Verification of the Major Metabolic Oxidation Path for the Naphthoyl Group in Chemoattractant Receptor-Homologous Molecule Expressed on Th2 Cells (CRTh2) Antagonist 2-(2-(1-Naphthoyl)-8-fluoro-3,4-dihydro-1H-pyrido[4,3-b]indol-5(2H)-yl)acetic Acid (Setipiprant/ACT-129968)](/images/research/d743d32f-3115-48ff-9697-2f2d56130701/small/14175.jpg)
research Verification of the Major Metabolic Oxidation Path for the Naphthoyl Group in Chemoattractant Receptor-Homologous Molecule Expressed on Th2 Cells (CRTh2) Antagonist 2-(2-(1-Naphthoyl)-8-fluoro-3,4-dihydro-1H-pyrido[4,3-b]indol-5(2H)-yl)acetic Acid (Setipiprant/ACT-129968)
The document confirms the structures of major metabolites of the CRTh2 antagonist Setipiprant and identifies minor metabolites.
research Heat shock protein 25 plays multiple roles during mouse skin development
research Tratamiento de la Depresión durante el embarazo: perspectivas clínicas
SRD5A2 enzyme expression varies in benign prostates and can be influenced by inflammation, affecting treatment options.
research A Synonymous Polymorphism of APCDD1 Affects Translation Efficacy and is Associated with Androgenic Alopecia
A certain gene variation can affect protein production and is linked to male pattern baldness.
research MicroRNA 조절을 통한 상처 치유 기전에 관한 연구
MIR135b affects wound healing by targeting genes, and PDRN may help heal wounds by altering this pathway.
research PINK1 deficiency rewires early immune responses in a mouse model of Parkinson’s disease triggered by intestinal infection
PINK1 is important for controlling gut immune responses linked to early Parkinson's disease.
research Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research Sebaceous gland abnormalities in fatty acyl CoA reductase 2 (Far2) null mice result in primary cicatricial alopecia
Deleting the Far2 gene in mice causes sebaceous gland issues and patchy hair loss.