PMC Links for Protein (Select 67472674) - PMC

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Items: 16

Select item 30277321.

Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia–cystinuria syndrome

B Chabrol, K Martens, S Meulemans, A Cano, J Jaeken, G Matthijs, J W M Creemers

BMJ Case Rep. 2009; 2009: bcr08.2008.0719. Published online 2009 Feb 2. doi: 10.1136/bcr.08.2008.0719

PMCID:: PMC3027732

Article

Select item 18015202.

Molecular Genetics of Cystinuria: Identification of Four New Mutations and Seven Polymorphisms, and Evidence for Genetic Heterogeneity

Paolo Gasparini, Maria Julia Calonge, Luigi Bisceglia, Jesus Purroy, Irma Dianzani, Angelo Notarangelo, Ferran Rousaud, Michele Gallucci, Xavier Testar, Alberto Ponzone, Xavier Estivill, Antonio Zorzano, Manuel Palacin, Virginia Nunes, Leopoldo Zelante

Am J Hum Genet. 1995 Oct; 57(4): 781–788.

PMCID:: PMC1801520

Summary Page Browse PDF–1.3M

Select item 18010893.

Mutations in the SLC3A1 Transporter Gene in Cystinuria

Elon Pras, Nina Raben, Eliahu Golomb, Nadir Arber, Ivona Aksentijevich, Jonathan M. Schapiro, Daniela Harel, Giora Katz, Uri Liberman, Mordechai Pras, Daniel L. Kastner

Am J Hum Genet. 1995 Jun; 56(6): 1297–1303.

PMCID:: PMC1801089

Summary Page Browse PDF–1.2M

Select item 17359134.

New insights into cystinuria: 40 new mutations, genotype–phenotype correlation, and digenic inheritance causing partial phenotype

M Font-Llitjos, M Jimenez-Vidal, L Bisceglia, P Di, L de Sanctis, F Rousaud, L Zelante, M Palacin, V Nunes

J Med Genet. 2005 Jan; 42(1): 58–68. doi: 10.1136/jmg.2004.022244

PMCID:: PMC1735913

Summary PDF–158K

Select item 13802225.

Deletion of PREPL, a Gene Encoding a Putative Serine Oligopeptidase, in Patients with Hypotonia-Cystinuria Syndrome

Jaak Jaeken, Kevin Martens, Inge François, François Eyskens, Claudine Lecointre, Rita Derua, Sandra Meulemans, Jerry W. Slootstra, Etienne Waelkens, Francis de Zegher, John W. M. Creemers, Gert Matthijs

Am J Hum Genet. 2006 Jan; 78(1): 38–51. Published online 2005 Nov 23. doi: 10.1086/498852

PMCID:: PMC1380222

Article PDF–2.6M

Select item 11359886.

Mutations of the basic amino acid transporter gene associated with cystinuria.

K Miyamoto, K Katai, S Tatsumi, K Sone, H Segawa, H Yamamoto, Y Taketani, K Takada, K Morita, H Kanayama, et al.

Biochem J. 1995 Sep 15; 310(Pt 3): 951–955. doi: 10.1042/bj3100951

PMCID:: PMC1135988

Summary Page Browse PDF–972K

Select item 5289287.

The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)

Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504

Correction in:: Genome Res. 2006 Jun; 16(6): 804.

PMCID:: PMC528928

Article PDF–140K

Select item 2881918.

Cloning and chromosomal localization of a human kidney cDNA involved in cystine, dibasic, and neutral amino acid transport.

W S Lee, R G Wells, R V Sabbag, T K Mohandas, M A Hediger

J Clin Invest. 1993 May; 91(5): 1959–1963. doi: 10.1172/JCI116415

PMCID:: PMC288191

Summary Page Browse PDF–1012K

Select item 408639.

Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria.

M J Calonge, V Volpini, L Bisceglia, F Rousaud, L de Sanctis, E Beccia, L Zelante, X Testar, A Zorzano, X Estivill, et al.

Proc Natl Acad Sci U S A. 1995 Oct 10; 92(21): 9667–9671. doi: 10.1073/pnas.92.21.9667

PMCID:: PMC40863

Summary Page Browse PDF–1.2M

Select item 2574810.

Luminal Heterodimeric Amino Acid Transporter Defective in Cystinuria

Rahel Pfeiffer, Jan Loffing, Grégoire Rossier, Christian Bauch, Christian Meier, Thomas Eggermann, Dominique Loffing-Cueni, Lukas C. Kühn, François Verrey

Mol Biol Cell. 1999 Dec; 10(12): 4135–4147. doi: 10.1091/mbc.10.12.4135