Results 101 to 110 of about 2,192 (190)

Detection of Mutation in Exons 3 and 8 of SLC3A1 and Exons 4 and 10 of SLC7A9 Genes in Patients with Cystinuria in Iran

مجله دانشکده پزشکی اصفهان, 2014
Background: Cystinuria, one of the first diagnosed inborn errors of metabolism, recognized by hyperexcretion of cystine, lysine, ornithine and arginine into the urine.
Leila Koulivand, Mehrdad Mohammadi, Rasoul Salehi, Behrouz Ezatpour, Majid Kheirollahi   +4 more
doaj  

The impact of western diet and nutrients on the microbiota and immune response at mucosal interfaces [PDF]

, 2017
Recent findings point toward diet having a major impact on human health. Diets can either affect the gut microbiota resulting in alterations in the host's physiological responses or by directly targeting the host response.
Donjete Statovci, John MacSharry, John MacSharry, Mònica Aguilera, Silvia Melgar   +4 more
core   +2 more sources

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

Evaluación de la contribución del factor de transcripción hand2 en la morfogénesis del pronefros durante el desarrollo en pez Cebra [PDF]

, 2014
Las enfermedades y problemas renales son más frecuentes en la actualidad. A nivel mundial, aproximadamente 1 de cada 1000 personas requieren un trasplante de riñón, y solo el 10% logra conseguirlo a tiempo.
Guio Vega, Gina Paola
core  

Pediatric Cystinuria Patient With Novel Mutation in SLC3A1 [PDF]

Global Pediatric Health, 2019
Yoshitaka Watanabe, Yoshifusa Abe, Shinichi Sakamoto, Eiji Morimoto, Yuko Taki, Satoshi Hibino, Takashi Fukagai, Shuichiro Watanabe   +7 more
openaire   +2 more sources

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

Sistin taşlı çocuklarda SLC3A1 ve SLC7A9 genlerinin analizi

, 2021
57
openaire   +1 more source

CATs and HATs: the SLC7 family of amino acid transporters [PDF]

, 2018
The SLC7 family is divided into two subgroups, the cationic amino acid transporters (the CAT family, SLC7A1-4) and the glycoprotein-associated amino acid transporters (the gpaAT family, SLC7A5-11), also called light chains or catalytic chains of the ...
Closs, Ellen, Endou, Hitoshi, Kanai, Yoshikatsu, Palacin, Manuel, Verrey, François, Wagner, Carsten   +5 more
core  

Genetic screening in patients with kidney failure from hypertension or unknown cause [PDF]

Hypertensiv nyresygdom og nyresygdom af ukendt årsag er, næst efter diabetes, de hyppigst rapporterede årsager til nyresvigt, hvilket vanskeliggør implementering af præcisionsmedicin indenfor nefrologi.
Granhøj, Jeff
core   +1 more source