Search Results - "Ana Perdomo-ramirez"

4-Phenylbutyric Acid Treatment Reduces Low-Molecular-Weight Proteinuria in a Clcn5 Knock-in Mouse Model for Dent Disease-1 by Perdomo-Ramírez, Ana, Ramos-Trujillo, Elena, Machado, Jose David, García-Nieto, Victor, Mura-Escorche, Glorián, Claverie-Martin, Félix

“…Dent disease-1 (DD-1) is a rare X-linked tubular disorder characterized by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrolithiasis and…”
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Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants by Bosman, Willem, Franken, Gijs A. C., de las Heras, Javier, Madariaga, Leire, Barakat, Tahsin Stefan, Oostenbrink, Rianne, van Slegtenhorst, Marjon, Perdomo-Ramírez, Ana, Claverie-Martín, Félix, van Eerde, Albertien M., Vargas-Poussou, Rosa, Dubourg, Laurence Derain, González-Recio, Irene, Martínez-Cruz, Luis Alfonso, de Baaij, Jeroen H. F., Hoenderop, Joost G. J.

“…Variants in the CNNM2 gene are causative for hypomagnesaemia, seizures and intellectual disability, although the phenotypes can be variable. This study aims to…”
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Hereditary kidney diseases associated with hypomagnesemia by Felix Claverie-martin, Ana Perdomo-ramirez, Victor Garcia-nieto

“…In the kidney, a set of proteins expressed in the epithelial cells of the thick ascending loop of Henle and the distal convoluted tubule directly or indirectly…”
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Characterization of pre-mRNA Splicing Defects Caused by CLCN5 and OCRL Mutations and Identification of Novel Variants Associated with Dent Disease by Mura-Escorche, Glorián, Perdomo-Ramírez, Ana, Ramos-Trujillo, Elena, Trujillo-Frías, Carmen Jane, Claverie-Martín, Félix

“…Dent disease (DD) is an X-linked renal tubulopathy characterized by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis and…”
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Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis by García‐Castaño, Alejandro, Perdomo‐Ramirez, Ana, Vall‐Palomar, Mònica, Ramos‐Trujillo, Elena, Madariaga, Leire, Ariceta, Gema, Claverie‐Martin, Felix

“…Background Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive tubulopathy characterized by excessive urinary…”
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Two new missense mutations in the protein interaction ASH domain of OCRL1 identified in patients with Lowe syndrome by Perdomo-Ramirez, Ana, Antón-Gamero, Montserrat, Rizzo, Daniela Sakaguchi, Trindade, Amelia, Ramos-Trujillo, Elena, Claverie-Martin, Felix

“…The oculocerebrorenal syndrome of Lowe is a rare X-linked disease characterized by congenital cataracts, proximal renal tubulopathy, muscular hypotonia and…”
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New SLC22A12 (URAT1) Variant Associated with Renal Hypouricemia Identified by Whole-Exome Sequencing Analysis and Bioinformatics Predictions by Perdomo-Ramírez, Ana, Ramos-Trujillo, Elena, Claverie-Martín, Félix

“…Renal hypouricemia (RHUC) is a rare hereditary disorder caused by loss-of-function mutations in the SLC22A12 (RHUC type 1) or SLC2A9 (RHUC type 2) genes,…”
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Pathogenic Variants of SLC22A12 (URAT1) and SLC2A9 (GLUT9) in Spanish Patients with Renal Hypouricemia: Founder Effect of SLC2A9 Variant c.374C>T; p.(T125M) by Perdomo-Ramirez, Ana, Cordoba-Lanus, Elizabeth, Trujillo-Frias, Carmen Jane, Gonzalez-Navasa, Carolina, Ramos-Trujillo, Elena, Luis-Yanes, Maria Isabel, Garcia-Nieto, Victor, Claverie-Martin, Felix

“…Renal hypouricemia (RHUC) is a rare inherited disorder characterized by impaired urate reabsorption in the proximal tubule resulting in low urate serum levels…”
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Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease by Suarez-Artiles, Lorena, Perdomo-Ramirez, Ana, Ramos-Trujillo, Elena, Claverie-Martin, Felix

“…Mutations in the gene are associated with both Lowe syndrome and Dent-2 disease. Patients with Lowe syndrome present congenital cataracts, mental disabilities…”
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Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterations by Perdomo-Ramirez, Ana, de Armas-Ortiz, Marian, Ramos-Trujillo, Elena, Suarez-Artiles, Lorena, Claverie-Martin, Felix

“…Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis type 1 is an autosomal recessive disease characterized by excessive renal magnesium and…”
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Nail‑Patella syndrome with early onset end‑stage renal disease in a child with a novel heterozygous missense mutation in the LMX1B homeodomain: A case report by Carinelli, Soledad, Blanco, Olalla, Perdomo‑Ramirez, Ana , Claverie‑Martin, Felix

“…Nail-Patella syndrome (NPS) is an inherited disease characterized by nail and skeletal anomalies, nephropathy and glaucoma. The diagnosis of NPS is based on…”
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Considerations about the molecular basis of some kidney tubule disorders in relation to inbreeding and population displacement by García-Nieto, Víctor M, Claverie-Martín, Félix, Perdomo-Ramírez, Ana, Cárdoba-Lanus, Elizabeth, Ramos-Trujillo, Elena, Mura-Escorche, Glorián, Tejera-Carreño, Patricia, Luis-Yanes, María I

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Renal diseases that course with hypomagnesemia. Comments on a new hereditary hypomagnesemic tubulopathy by Garcia-Nieto, Víctor M., Claverie-Martin, Félix, Moraleda-Mesa, Teresa, Perdomo-Ramírez, Ana, Fraga-Rodríguez, Gloria Mª, Luis-Yanes, María Isabel, Ramos-Trujillo, Elena

“…Renal diseases associated with hypomagnesemia are a complex and diverse group of tubulopathies caused by mutations in genes encoding proteins that are…”
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Characterization of two novel mutations in the claudin-16 and claudin-19 genes that cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis by Perdomo-Ramirez, Ana, Aguirre, Mireia, Davitaia, Tinatin, Ariceta, Gema, Ramos-Trujillo, Elena, Claverie-Martin, Felix

“…Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is an autosomal-recessive renal tubular disorder characterized by excessive urinary losses of…”
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Treatment with 4-Phenylbutyrate Reduces Low-Molecular-Weight Proteinuria in a Clcn5 Knock-In Mouse Model for Dent Disease: PO1311 by Perdomo-Ramirez, Ana, Ramos-Trujillo, Elena, Escorche, Glorian Mura, Garcia-Nieto, Victor, Machado, Jose-David, Claverie-Martin, Felix

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Gout associated with reduced renal excretion of uric acid. Renal tubular disorder that nephrologists do not treat by García-Nieto, Víctor M., Claverie-Martín, Félix, Moraleda-Mesa, Teresa, Perdomo-Ramírez, Ana, Tejera-Carreño, Patricia, Cordoba-Lanus, Elizabeth, Luis-Yanes, María I., Ramos-Trujillo, Elena

“…Gout is recurrent inflammatory arthritis caused by the deposition of monosodium urate crystals in the joints. The risk factors that predispose to suffering…”
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Pathogenic Variants of ISLC22A12/I by Perdomo-Ramirez, Ana, Cordoba-Lanus, Elizabeth, Trujillo-Frias, Carmen Jane, Gonzalez-Navasa, Carolina, Ramos-Trujillo, Elena, Luis-Yanes, Maria Isabel, Garcia-Nieto, Victor, Claverie-Ma

“…Renal hypouricemia (RHUC) is a rare inherited disorder characterized by impaired urate reabsorption in the proximal tubule resulting in low urate serum levels…”
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Possible role for rare TRPM7 variants in patients with hypomagnesaemia with secondary hypocalcaemia by Vargas-Poussou, Rosa, Claverie-Martin, Felix, Prot-Bertoye, Caroline, Carotti, Valentina, van der Wijst, Jenny, Perdomo-Ramirez, Ana, Fraga-Rodriguez, Gloria M, Hureaux, Marguerite, Bos, Caro, Latta, Femke, Houillier, Pascal, Hoenderop, Joost G J, de Baaij, Jeroen H F

“…ABSTRACT Background Hypomagnesaemia with secondary hypocal-caemia (HSH) is a rare autosomal recessive disorder caused by pathogenic variants in TRPM6, encoding…”
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Hereditary renal hypouricaemia type 1 and 2 in three Spanish children. Review of published paediatric cases by Peris Vidal, Amelia, Marin Serra, Juan, Lucas Sáez, Elena, Ferrando Monleón, Susana, Claverie-Martin, Félix, Perdomo Ramírez, Ana, Trujillo-Suarez, Jorge, Fons Moreno, Jaime

“…Hereditary renal hypouricemia is a rare autosomal recessive genetic disorder that involves an isolated defect in uric acid reabsorption at the renal tubules…”
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Considerations about the molecular basis of some kidney tubule disorders in relation to inbreeding and population displacement by García-Nieto, Víctor M., Claverie-Martín, Félix, Perdomo-Ramírez, Ana, Cárdoba-Lanus, Elizabeth, Ramos-Trujillo, Elena, Mura-Escorche, Glorián, Tejera-Carreño, Patricia, Luis-Yanes, María I.

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