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Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KATP Channel Mutations in Intact Cells

research Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome K_ATPChannel Mutations in Intact Cells

1 citations , August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics”

Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.

research Genetic variants in AR and SHBG and resistance to hormonal castration in prostate cancer

6 citations , February 2013 in “Medical Oncology”

Certain genetic variants increase the risk of resistance to hormone therapy in prostate cancer patients.

research The antiandrogen cyproterone acetate: discovery, chemistry, basic pharmacology, clinical use and tool in basic research^*

88 citations , July 2009 in “Experimental and Clinical Endocrinology & Diabetes”

research Association of estrogen receptor gene variants (ESR1 and ESR2) with polycystic ovary syndrome in Tunisia

9 citations , March 2020 in “Gene”

Certain gene variants in estrogen receptors are linked to polycystic ovary syndrome, mainly affecting metabolism, in Tunisian women.

research Effect of C-ring modifications in benzo[c]quinolizin-3-ones, new selective inhibitors of human 5α-reductase 1

12 citations , June 2001 in “Bioorganic & Medicinal Chemistry”

Changing the C-ring structure in certain compounds can make them better at blocking a specific human enzyme.

research Allelic frequencies for the seventeen Y-STR loci observed in Iraqi male patients with prostate cancer

3 citations , April 2015 in “AFRICAN JOURNAL OF BIOTECHNOLOGY”

Certain genetic markers on the Y-chromosome may influence prostate cancer risk in Iraqi males.

research Pharmacophore Modeling and Three Dimensional Database Searching for Drug Design Using Catalyst: Recent Advances

153 citations , November 2004 in “Current Medicinal Chemistry”

The document concludes that Catalyst software is effective for drug design, identifying potent compounds for various medical conditions.

research First-in-human phase 1 study of ETC-159 an oral PORCN inhbitor in patients with advanced solid tumours.

33 citations , May 2017 in “Journal of Clinical Oncology”

ETC-159 was safe up to 30 mg, but no tumor shrinkage was seen.

research FINASTERIDE INFLUENCE ON P-GLYCOPROTEIN FUNCTIONAL ACTIVITY

1 citations , December 2012 in “I P Pavlov Russian Medical Biological Herald”

Finasteride increases P-glycoprotein activity in the liver and kidney.

research Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin

10 citations , November 2018 in “Genetics in medicine”

Lack of cystatin M/E causes thin hair and dry skin.

research 138 Characterization of xenobiotic metabolizing enzymes of a reconstructed human epidermal model from adult hair follicles

September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology”

The reconstructed skin model from hair follicles functions like human skin in processing chemicals and can be used to test ingredient safety.

research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum

November 2025 in “Journal of Investigative Dermatology”

A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.

Methylation of CpG Islands in Promoter of Type 2 5-Alpha Reductase and Implications of Finasteride Resistance for BPH Therapy

research 102 Methylation of CpG islands in promoter of type 2 5-α reductase and implications of finasteride resistance for BPH therapy

March 2016 in “European Urology Supplements”

Methylation in specific gene region causes finasteride resistance in some BPH patients.

research Synthesis and Evaluation of 2‘-Substituted 4-(4‘-Carboxy- or 4‘-carboxymethylbenzylidene)-N-acylpiperidines: Highly Potent and in Vivo Active Steroid 5α-Reductase Type 2 Inhibitors

22 citations , June 2002 in “Journal of Medicinal Chemistry”

Compounds 15, 20, and 25 are strong inhibitors of human steroid 5α-reductase type 2.

research Polymorphisms in the promoter regions of the CXCL1 and CXCL2 genes contribute to increased risk of alopecia areata in the Korean population

8 citations , January 2015 in “Genetics and Molecular Research”

Certain gene variations increase the risk of alopecia areata in Koreans.

research Identification of Metabolites for the Novel 5α‐Reductase Inhibitor Epristeride In Vitro and Its Potential Impact on Doping Testing

November 2025 in “Drug Testing and Analysis”

Epristeride's metabolism involves key metabolites and proteins, affecting its use in doping tests.

research Potent Efficacy of Computer-Aided Designed Peptide Degrader Drug on PCSK9-Mediated Hypercholesterolemia

2 citations , June 2025

Cadd4 effectively reduces cholesterol levels without side effects.

Computer-Based Screening of Selected Phytoconstituents from Cyperus Rotundus Linn. Against 5 Alpha Reductase Enzyme

research Computer Based Screening of Selected Phytoconstituents from Cyperus Rotundus Linn. Against 5 α Reductase Enzyme

June 2021 in “International Journal of Ayurvedic Medicine”

Phytoconstituents from Cyperus Rotundus may help treat hirsutism by interacting with the 5 α reductase enzyme.

research Comparison of Activities Dependent on Glutathione S-Transferase and Cytochrome P-450 IA1 in Cultured Keratinocytes and Reconstructed Epidermal Models

42 citations , January 2002 in “Skin Pharmacology and Physiology”

Reconstructed skin models are useful for studying how skin processes certain chemicals.

A Case of MBTPS1-Related Disorder Due to Compound Heterozygous Variants in MBTPS1 Gene: Genotype-Phenotype Expansion and the Emergence of a Novel Syndrome

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

December 2023 in “American journal of medical genetics. Part A”

A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.

research Genetic Association Between Polycystic Ovary Syndrome and the APOA5 rs662799 and PLIN1 rs894160 Metabolic Variants in the Western Saudi Population: A Case-Control Study

January 2024 in “Biomarker Insights”

Certain genetic variants may increase the risk of developing PCOS.

research Genetic Ablation of the CDP/Cux Protein C Terminus Results in Hair Cycle Defects and Reduced Male Fertility

97 citations , March 2002 in “Molecular and cellular biology”

Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.

research The association between rs2476601 polymorphism in PTPN22 gene and risk of alopecia areata

9 citations , May 2019 in “Medicine”

The C-allele and CC-genotype in the PTPN22 gene lower the risk of alopecia areata.

research 1424 METHYLATION AND DECREASED EXPRESSION OF 5-ALPHA REDUCTASE 2 IN HUMAN PROSATE SAMPLES: IMPLICATIONS FOR RESISTANCE TO THERAPY FOR BPH

March 2010 in “The Journal of Urology”

Methylation of the 5-AR2 gene may cause resistance to Finasteride in BPH patients.

research Cantú Syndrome Is Caused by Mutations in ABCC9

148 citations , May 2012 in “The American Journal of Human Genetics”

Cantú syndrome is caused by mutations in the ABCC9 gene.

Unusual Systemic Lupus Erythematosus/Sjogren's Syndrome Phenotype in a Patient with a TNFAIP3 Gene Mutation

research SAT0200 UNUSUAL SYSTEMIC LUPUS ERYTHEMATOSUS/SJOEGREN'S SYNDROME PHENOTYPE IN A PATIENT WITH A TNFAIP3 GENE MUTATION

June 2019

A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.

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