Results 101 to 110 of about 1,500 (175)

Spectrum of genetic mutations among Iranian patients with primary hyperoxaluria type 1

Journal of Clinical and Translational Endocrinology Case Reports
Primary hyperoxaluria type 1 (PH1) is a genetic disorder by defect in the liver peroxisomal enzyme alanine-glyoxylate aminotransferase (AGT). Here, we report the clinical and molecular data of four Iranian patients with PH1.
Mohadeseh Fathi, Sheyda Khalilian, Nakysa Hooman, Mostafa Sharifian, Saeed Talebi, Faezeh Sherafat, Fatemeh Fazeli, Mohammad Miryounesi, Soudeh Ghafouri-Fard   +8 more
doaj   +1 more source

Urine amino acid content. [PDF]

, 2015
Mean±S.E.M. of urine amino acids (nmols amino acid/24h∙g) of arginine (A), ornithine (B), lysine (C) and cystine (D) from 3 months‐old male mice (n≥7 animals for each genotype) are represented.
Eduardo Salido (179852), Esther Prat (794256), Clara Vilches (794255), Mariona Font-Llitjós (562770), Meritxell Espino (794254), Miguel López de Heredia (40876), Virginia Nunes (40884), Manuel Palacín (5649286)   +7 more
core   +1 more source

Comparative analysis of hepatic transcriptomes and metabolomes of Changshun green-shell laying hens based on different green eggshell color intensities

Poultry Science
: The eggshell color of avian species is an important trait that is predominantly determined by the pigments biliverdin and protoporphyrin. Various factors affect eggshell pigment deposition and coloration; however, the underlying mechanisms remain ...
Wenbin Xu, Ren Mu, Tuya Gegen, Jiaxiang Luo, Yang Xiao, Shunnian Ou, Qi Wu, Yongsong Zuo, Zhi Chen, Fangwei Li   +9 more
doaj   +1 more source

Machine learning-based feature selection for ultra-high-dimensional survival data: a computational approach

Journal of Nigerian Society of Physical Sciences
Ultra-high-dimensional (UHD) survival data presents significant computational challenges in biomedical research, particularly in Renal Cell Carcinoma (RCC), where genomic complexity complicates risk assessment. Effective feature selection is crucial for
Nahid Salma, Majid Khan Majahar Ali, Raja Aqib Shamim   +2 more
doaj   +1 more source

Cystinuria: A Genetic and Molecular View – What Is Known about Animal Models and Cells

Kidney & Blood Pressure Research
Background: Cystinuria is a rare genetic tubulopathy caused by mutations on SLC7A9 and SLC3A1 genes encoding for the apical membrane rBAT/b0,+AT transporter.
Iris Iuliano, Anna Iervolino, Yoko Suzumoto, Abbas Shams, Consiglia Longobardi, Giovambattista Capasso, Alessandra F. Perna, Giovanna Capolongo   +7 more
doaj   +1 more source

Reabsorció renal d'aminoàcids: anàlisi de mutacions de SLC7A9, el gen de cistinúria de tipus B, i generació d'un model murí "knockout" de Slc7a8 [PDF]

, 2005
[cat] La cistinúria és una aminoacidúria hereditària autosòmica recessiva (tipus I, OMIM 220100) i dominant amb penetrança incompleta (tipus no I, OMIM 600918) caracteritzada per un defecte en el transport d'aminoàcids bàsics i cistina que afecta les cèl·
Font i Llitjós, Mariona
core   +2 more sources

SLC3A1 Gene [PDF]

, 2020
openaire   +1 more source

Dietary protein re-alimentation following restriction improves protein deposition via changing amino acid metabolism and transcriptional profiling of muscle tissue in growing beef bulls

Animal Nutrition
This study aimed to develop a compensatory growth model using growing beef cattle by changing dietary protein and to investigate the underlying mechanisms of compensatory protein deposition in muscle tissue.
Jiaqi Wang, Chun Shen, Guangyong Zhao, Mark D. Hanigan, Mengmeng Li   +4 more
doaj   +1 more source

Novel human pathological mutations. Gene symbol: SLC3A1. Disease: Cystinuria.

Human genetics, 2009
Hum ...
Chatzikyriakidou, A., Kollios, K. D., Georgiou, I.   +2 more
openaire   +2 more sources

Distinct genetic architecture of coronary heart disease in dyslipidemia patients

BMC Medical Genomics
Background Mutations of LDLR, APOB and PCSK9 have been well-established to cause hypercholesterolemia while the pathogenic effects of LPL has been confirmed by cohorts and functional studies in hypertriglyceridemia.
Man Huang, Xiuli Song, Shuni Zhou, Haiyan Zhang, Lijuan He, Yanghui Chen, Guangzhi Chen, Hu Ding, Jiangang Jiang, Yan Wang, Dao Wen Wang, Yang Sun, Hong Wang   +12 more
doaj   +1 more source