Results 111 to 120 of about 1,500 (175)

Molecular genetic studies on cystinuria [PDF]

, 2007
Cystinuria is defined as an inherited disorder characterized by increased urinary excretion of cystine and the dibasic amino acids arginine, lysine and ornithine.
Harnevik, Lotta
core  

Molecular genetic studies on cystinuria [Elektronisk resurs] [PDF]

, 2007
Cystinuria is defined as an inherited disorder characterized by increased urinary excretion of cystine and the dibasic amino acids arginine, lysine and ornithine.
Larsson, Catharina,, Harnevik, Lotta,, Söderkvist, Peter,   +2 more
core  

Digenic inheritance in cystinuria mouse model [PDF]

Cystinuria is an aminoaciduria caused by mutations in the genes that encode the two subunits of the amino acid transport system b0,+, responsible for the renal reabsorption of cystine and dibasic amino acids. The clinical symptoms of cystinuria relate to
Salido, Eduardo, Espino, Meritxell, Vilches, Clara, Font i Llitjós, Mariona, López de Heredia, Miguel, Palacín Prieto, Manuel, Nunes Martínez, Virginia, Prat, Esther   +7 more
core  

Sistin taşlı çocuklarda SLC3A1 ve SLC7A9 genlerinin analizi

, 2021
57
openaire   +1 more source

Oncogenic role of the SLC7A13-SLC3A1 cystine transporter in human luminal breast cancer and its cryo-EM structure. [PDF]

Protein Cell
Dong J, Shi T, Lin B, Liu X, Wei W, Geng Z, Liu M, Yan R, Dong JT.   +8 more
europepmc   +1 more source

Acquired cystinuria in a kidney transplant recipient. [PDF]

Clin Kidney J
Martin C, Kutchukian S, Ecotière L, Ducousso H, Thierry A, Knebelmann B, Bridoux F.   +6 more
europepmc   +1 more source

The Influence of Sex and Hormones on Organelle Stress in Kidney Injury: Insights from Preclinical Models. [PDF]

Biology (Basel)
Salazar-Gonzalez H, Gutierrez-Mercado YK, Echavarria R.   +2 more
europepmc   +1 more source

Integrate bulk RNA and single-cell sequencing to identify prognostic genes associated with dietary restriction and circadian rhythm in colorectal cancer and conduct experimental verification. [PDF]

Clin Exp Med
He D, Ma L, Zhang Y, Zhang J, Wu W, Liu F, Li Y.   +6 more
europepmc   +1 more source

Cystinuria in a 13-month-old girl with absence of mutations in the SLC3A1 and SLC7A9 Genes

Indian Journal of Nephrology, 2018
Krishnamurthy, S., Pavani, C., Kurup, P. M., Palanisamy, S., Jagadeesh, A., Sekar, K., Mahadevan, S., Bisceglia, L.   +7 more
openaire   +4 more sources

Mechanisms involved in aminoacidurias: impacts of genetic and environmental factors. [PDF]

Curr Res Physiol
Ajayi JA, Ananias EN, Issa-Lawal M, Gambari AM, Aribatise AB, Ojulari LS, Alagbonsi AI.   +6 more
europepmc   +1 more source