Results 51 to 60 of about 2,192 (190)

Analysis of chronic kidney disease patients by targeted next-generation sequencing identifies novel variants in kidney-related genes

Frontiers in Genetics, 2022
Despite the enormous economic and societal burden of chronic kidney disease (CKD), its pathogenesis remains elusive, impeding specific diagnosis and targeted therapy. Herein, we sought to elucidate the genetic causes of end-stage renal disease (ESRD) and
Manal Alaamery, Manal Alaamery, Manal Alaamery, Jahad Alghamdi, Salam Massadeh, Salam Massadeh, Salam Massadeh, Mona Alsawaji, Nora Aljawini, Nora Aljawini, Nora Aljawini, Nour Albesher, Nour Albesher, Bader Alghamdi, Mansour Almutairi, Fayez Hejaili, Fayez Hejaili, Majid Alfadhel, Batoul Baz, Bader Almuzzaini, Adel F. Almutairi, Mubarak Abdullah, Francisco J. Quintana, Abdullah Sayyari, Abdullah Sayyari, Abdullah Sayyari   +25 more
doaj   +1 more source

Feline Cystinuria Caused by a Missense Mutation in theSLC3A1Gene [PDF]

Journal of Veterinary Internal Medicine, 2014
BackgroundCystinuria is an inherited metabolic disease that is relatively common in dogs, but rare in cats and is characterized by defective amino acid reabsorption, leading to cystine urolithiasis.ObjectivesThe aim of this study was to report on a mutation in a cystinuric cat.AnimalsA male domestic shorthair (DSH) cat with cystine calculi, 11 control ...
Mizukami, K., Raj, K., Giger, U.
openaire   +2 more sources

Impaired nutrient signaling and body weight control in a Na⁺ neutral amino acid cotransporter (Slc6a19)-deficient mouse [PDF]

, 2015
Amino acid uptake in the intestine and kidney is mediated by a variety of amino acid transporters. To understand the role of epithelial neutral amino acid uptake in whole body homeostasis, we analyzed mice lacking the apical broad-spectrum neutral (0 ...
Bailey, Charles G., Bröer, Angelika, Bröer, Stefan, Holst, Jeff, Juelich, Torsten, Rasko, John E J, Solomon, Peter S, Tietze, Nadine, Vanslambrouck, Jessica M   +8 more
core   +1 more source

Combining Genome Wide Association Studies and Differential Gene Expression Data Analyses Identifies Candidate Genes Affecting Mastitis Caused by Two Different Pathogens in the Dairy Cow [PDF]

, 2015
Mastitis is a costly disease which hampers the dairy industry. Inflammation of the mammary gland is commonly caused by bacterial infection, mainly Escherichia coli, Streptococcus uberis and Staphylococcus aureus.
Chen, X, Cheng, Z R, Wathes, D C, Werling, D, Zhang, S   +4 more
core   +3 more sources

Absorptive transport of amino acids by the rat colon. [PDF]

, 2020
The capacity of the colon to absorb microbially produced amino acids (AAs) and the underlying mechanisms of AA transport are incompletely defined.
Chen, Yuxin, Cramer, Scott E, Dinges, Meredith M, Green, Andrew, Larive, Cynthia K, Lytle, Christian   +5 more
core  

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia [PDF]

, 2016
BACKGROUND: Inborn errors of metabolism (IEMs) are individually rare; however, they are collectively common. More than 600 human diseases caused by inborn errors of metabolism are now recognized, and this number is constantly increasing as new concepts ...
Abdullah Alzaben, Ahmed A. Alfares, Ali Al Othaim, Fuad Al Mutairi, Majid Alfadhel, Mohammad Arif Hossain, Mohammed Al Balwi, Mohammed Benmeakel, Wafaa Eyaid   +8 more
core   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Global miRNA, lncRNA, and mRNA Transcriptome Profiling of Endometrial Epithelial Cells Reveals Genes Related to Porcine Reproductive Failure Caused by Porcine Reproductive and Respiratory Syndrome Virus

Frontiers in Immunology, 2019
Porcine reproductive and respiratory syndrome virus (PRRSV) can cause respiratory disease and reproductive failure in pregnant pigs. Previous transcriptome analyses in susceptive cells have mainly concentrated on pulmonary alveolar macrophages (PAM) and ...
Kang Zhang, Lijiang Ge, Shasha Dong, Ying Liu, Dong Wang, Chunyan Zhou, Cai Ma, Yanchao Wang, Feng Su, Yunliang Jiang   +9 more
doaj   +1 more source

KLINIČNI PRIMER BOLNIKA S CISTINURIJO

Slovenska pediatrija, 2020
Cistinurija je redka genetska bolezen, za katero je značilno pojavljanje ledvičnih kamnov. Klinično se kaže z ledveno bolečino, vročino ali hematurijo. »e bolezni ne zdravimo, lahko kamni zaprejo odtok urina in ogrozijo ledvico.
Matej Kemperle, Robert Kordič, Rina Rus
doaj   +1 more source

Effect of N-Carbamylglutamate Supplementation on Growth Performance, Jejunal Morphology, Amino Acid Transporters, and Antioxidant Ability of Weaned Pigs

Animals, 2023
Weaning is an important period that affects the performance of piglets. However, the regulation of dietary amino acid levels is considered to be an effective way to alleviate the weaning stress of piglets.
Naizhi Hu, Pei Mao, Xiaoya Xiong, Zhuangzhuang Ma, Zhijiang Xie, Mengmeng Gao, Qiujue Wu, Wenfeng Ma   +7 more
doaj   +1 more source