Results 71 to 80 of about 1,383 (138)

First reported case of Dent Disease Type 2 in a Trisomy 21 child

Rare
Dent disease is an X-linked recessive proximal tubulopathy predominantly affecting male children with a classic triad of low molecular weight proteinuria, hypercalciuria and nephrocalcinosis.
Hasani Hewavitharana, Randula Ranawaka, Vajira H.W. Dissanayake   +2 more
doaj   +1 more source

Dent’s disease: case series from a single center

The Turkish Journal of Pediatrics
Background. Dent’s disease (DD) is a rare X-linked recessive tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis/nephrolithiasis and chronic kidney disease.
Hilal Yaşar, Emre Leventoğlu, Bahar Büyükkaragöz, Kibriya Fidan, Sevcan A. Bakkaloğlu, Oğuz Söylemezoğlu   +5 more
doaj   +1 more source

Identification and functional analysis of a novel oculocerebrorenal syndrome of Lowe (OCRL) gene variant in two pedigrees with varying phenotypes including isolated congenital cataract.

Molecular vision, 2018
To identify the genetic variation in two unrelated probands with congenital cataract and to perform functional analysis of the detected variants.Clinical examination and phenotyping, segregation, and functional analysis were performed for the two studied pedigrees.A novel OCRL gene variant (c.1964A>T, p. (Asp655Val)) was identified. This variant causes
Shalaby, Ahmed K., Emery-Billcliff, Peter, Baralle, Diana, Dabir, Tabib, Begum, Shahiba, Waller, Sarah, Tabernero, Lydia, Lowe, Martin, Self, James   +8 more
openaire   +3 more sources

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

Transcriptomic signatures in peripheral CD4+T-lymphocytes may reflect melanoma staging and immunotherapy responsiveness prior to ICI initiation

Frontiers in Immunology
Background and purposePromoting adaptive immunity with ICIs has drastically improved melanoma prognosis, but not for all patients. Some cases relapse in the first few months, while others keep durable benefit, even after immunotherapy discontinuation. To
Eleni Palli, Matthieu Lavigne, Panagiotis Verginis, Themis Alissafi, Amalia Anastasopoulou, Georgios Lyrarakis, John M. Kirkwood, Helen Gogas, Dimitrios C. Ziogas   +8 more
doaj   +1 more source

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

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

Is hyperammonemia helpful in detecting syndromic tubulopathies with early extrarenal manifestations? A case report of Lowe’s syndrome

Egyptian Pediatric Association Gazette
Background Generally, it is not well known that Lowe’s syndrome may coexist with hyperammonemia and hipocarnitynemia. The importance of hyperammonemia in the diagnosis of kidney diseases is not completely understood.
Agnieszka Jędzura, Monika Dębowska, Piotr Adamczyk   +2 more
doaj   +1 more source

Enhanced Notch dependent gliogenesis and delayed physiological maturation underlie neurodevelopmental defects in Lowe syndrome. [PDF]

EMBO Mol Med
Sharma Y, Bhatia P, Rangappa G, Saha S, Raghu P.   +4 more
europepmc   +2 more sources

Decreased urinary excretion of the ectodomain form of megalin (A-megalin) in children with OCRL gene mutations

Decreased urinary excretion of the ectodomain form of megalin (A-megalin) in children with OCRL gene mutations
令和元年度
openaire  

Molecular Basis of Rare Inherited Tubulopathies of the Kidney: A Primer for Clinicians. [PDF]

Int J Mol Sci
Vecino-Pérez M, García-Murias M, Carrera N, Pedrosa P, García-González MÁ.   +4 more
europepmc   +1 more source