Results 111 to 120 of about 2,184 (189)

The oculocerebrorenal syndrome of Lowe: an update [PDF]

, 2016

core   +1 more source

MO069LRP2 VARIANTS IN DENT DISEASE PATIENTS WITH NO DETECTABLE MUTATION IN CLCN5 AND OCRL GENES [PDF]

Nephrology Dialysis Transplantation, 2017
TERRIN, LILIANA, BERTOLDI, LORIS, CEOL, MONICA, GIANESELLO, LISA, PRIANTE, GIOVANNA, DEL PRETE, DORELLA, VALLE, GIORGIO, ANGLANI, FRANCA   +7 more
openaire   +1 more source

Caractérisation des canaux potassiques du tubule contourné proximal et des propriétés régulatrices des canaux chlorure de la membrane basolatérale des cellules intercalaires du tubule connecteur [PDF]

, 2015
A 10 pS chloride channel at the basolateral side of connecting duct intercalated cells shares properties with the cloned ClC-K2 channel. Patch-clamp experiments show that its activity and the number of active channels increase with (i) membrane ...
Pinelli, Laurent
core   +2 more sources

Prognostic and biologic significance of long non-coding RNA profiling in younger adults with cytogenetically normal acute myeloid leukemia [PDF]

, 2017
et al.,, Uy, Geoffrey L
core   +2 more sources

MO063WHOLE EXOME SEQUENCING IN DENT DISESE PATIENTS WITH NO DETECTABLE MUTATIONS IN CLCN5 AND OCRL GENES [PDF]

Nephrology Dialysis Transplantation, 2016
Terrin, Liliana, Bertoldi, Loris, Ceol, Monica, Addis, Maria, Gianesello, Lisa, Priante, Giovanna, Del Prete, Dorella, Valle, Giorgio, Anglani, Franca   +8 more
openaire   +1 more source

Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1

Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1
Background In recent years, the elucidation of splicing abnormalities as a cause of hereditary diseases has progressed. However, there are no comprehensive reports of suspected splicing variants in the CLCN5 gene in Dent disease cases. We reproduced gene mutations by mutagenesis, inserted the mutated genes into minigene vectors, and investigated the ...
openaire  

Database of <i>CLCN5</i> Pathogenic Variants Causing Dent Disease. [PDF]

Kidney Int Rep
Lyu P, Yoo KW, Chen Z, Lu F, Cogal A, Harris PC, Lieske JC, Lu B.   +7 more
europepmc   +1 more source

Genetic and clinical phenotype of Dent disease in Chinese children and the etiological analysis of early - onset chronic kidney disease. [PDF]

Ital J Pediatr
Zhou L, Yu Z, Yang Y, Han Y, Qiu L, Zhang Y, Yang F, Zhou J.   +7 more
europepmc   +1 more source

Complexity of the 5'UTR region of the CLCN5 gene: eleven 5'UTR ends are differentially expressed in the human kidney. [PDF]

BMC Med Genomics, 2014
Tosetto E, Casarin A, Salviati L, Familiari A, Lieske JC, Anglani F.   +5 more
europepmc   +1 more source

Genetic background of infantile hypophosphatemia: a narrative review. [PDF]

Transl Pediatr
Zeng X, Hu L.
europepmc   +1 more source