keyword
MENU ▼
Read by QxMD icon Read
search

SLC34A3

keyword
https://www.readbyqxmd.com/read/27378183/loss-of-function-of-napiiia-causes-nephrocalcinosis-and-possibly-kidney-insufficiency
#1
Dganit Dinour, Miriam Davidovits, Liat Ganon, Justyna Ruminska, Ian C Forster, Nati Hernando, Eran Eyal, Eli J Holtzman, Carsten A Wagner
BACKGROUND: Inherited metabolic disorders associated with nephrocalcinosis are rare conditions. The aim of this study was to identify the genetic cause of an Israeli-Arab boy from a consanguineous family with severe nephrocalcinosis and kidney insufficiency. METHODS: Clinical and biochemical data of the proband and family members were obtained from both previous and recent medical charts. Genomic DNA was isolated from peripheral blood cells. The coding sequence and splice sites of candidate genes (CYP24A1, CYP27B1, FGF23, KLOTHO, SLC34A3 and SLC34A1) were sequenced directly...
July 4, 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/27338702/hypophosphatemia-promotes-lower-rates-of-muscle-atp-synthesis
#2
Dominik H Pesta, Dimitrios N Tsirigotis, Douglas E Befroy, Daniel Caballero, Michael J Jurczak, Yasmeen Rahimi, Gary W Cline, Sylvie Dufour, Andreas L Birkenfeld, Douglas L Rothman, Thomas O Carpenter, Karl Insogna, Kitt Falk Petersen, Clemens Bergwitz, Gerald I Shulman
Hypophosphatemia can lead to muscle weakness and respiratory and heart failure, but the mechanism is unknown. To address this question, we noninvasively assessed rates of muscle ATP synthesis in hypophosphatemic mice by using in vivo saturation transfer [(31)P]-magnetic resonance spectroscopy. By using this approach, we found that basal and insulin-stimulated rates of muscle ATP synthetic flux (VATP) and plasma inorganic phosphate (Pi) were reduced by 50% in mice with diet-induced hypophosphatemia as well as in sodium-dependent Pi transporter solute carrier family 34, member 1 (NaPi2a)-knockout (NaPi2a(-/-)) mice compared with their wild-type littermate controls...
October 2016: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/26789268/increased-probability-of-co-occurrence-of-two-rare-diseases-in-consanguineous-families-and-resolution-of-a-complex-phenotype-by-next-generation-sequencing
#3
Dennis Lal, Bernd A Neubauer, Mohammad R Toliat, Janine Altmüller, Holger Thiele, Peter Nürnberg, Clemens Kamrath, Anne Schänzer, Thomas Sander, Andreas Hahn, Michael Nothnagel
Massively parallel sequencing of whole genomes and exomes has facilitated a direct assessment of causative genetic variation, now enabling the identification of genetic factors involved in rare diseases (RD) with Mendelian inheritance patterns on an almost routine basis. Here, we describe the illustrative case of a single consanguineous family where this strategy suffered from the difficulty to distinguish between two etiologically distinct disorders, namely the co-occurrence of hereditary hypophosphatemic rickets (HRR) and congenital myopathies (CM), by their phenotypic manifestation alone...
2016: PloS One
https://www.readbyqxmd.com/read/26598821/the-role-of-sodium-dependent-phosphate-transporter-in-phosphate-homeostasis
#4
REVIEW
Hiroko Segawa, Yuji Shiozaki, Ichiro Kaneko, Ken-ichi Miyamoto
Inorganic phosphate (Pi) is an essential compound for several biologic functions. Pi levels outside the normal range, however, contribute to several pathological processes. Hypophosphatemia leads to bone abnormalities, such as rickets/osteomalacia. Hyperphosphatemia contributes to vascular calcification in patients with chronic kidney disease and hemodialysis patients and is independently associated with cardiac mortality.Pi homeostasis is regulated by the coordinated function of renal and intestinal sodium-dependent phosphate (NaPi) transporters with dietary Pi, parathyroid hormone, 1,25-dihydroxyvitamin D3, and fibroblast growth factor 23...
2015: Journal of Nutritional Science and Vitaminology
https://www.readbyqxmd.com/read/26543054/hereditary-hypophosphatemia-in-norway-a-retrospective-population-based-study-of-genotypes-phenotypes-and-treatment-complications
#5
Silje Rafaelsen, Stefan Johansson, Helge Ræder, Robert Bjerknes
OBJECTIVE: Hereditary hypophosphatemias (HH) are rare monogenic conditions characterized by decreased renal tubular phosphate reabsorption. The aim of this study was to explore the prevalence, genotypes, phenotypic spectrum, treatment response, and complications of treatment in the Norwegian population of children with HH. DESIGN: Retrospective national cohort study. METHODS: Sanger sequencing and multiplex ligand-dependent probe amplification analysis of PHEX and Sanger sequencing of FGF23, DMP1, ENPP1KL, and FAM20C were performed to assess genotype in patients with HH with or without rickets in all pediatric hospital departments across Norway...
February 2016: European Journal of Endocrinology
https://www.readbyqxmd.com/read/26399350/relationship-between-sodium-dependent-phosphate-transporter-napi-iic-function-and-cellular-vacuole-formation-in-opossum-kidney-cells
#6
Yuji Shiozaki, Hiroko Segawa, Saori Ohnishi, Akiko Ohi, Mikiko Ito, Ichiro Kaneko, Shinsuke Kido, Sawako Tatsumi, Ken-ichi Miyamoto
NaPi-IIc/SLC34A3 is a sodium-dependent inorganic phosphate (Pi) transporter in the renal proximal tubules and its mutations cause hereditary hypophosphatemic rickets with hypercalciuria (HHRH). In the present study, we created a specific antibody for opossum SLC34A3, NaPi-IIc (oNaPi-IIc), and analyzed its localization and regulation in opossum kidney cells (a tissue culture model of proximal tubular cells). Immunoreactive oNaPi-IIc protein levels increased during the proliferative phase and decreased during differentiation...
2015: Journal of Medical Investigation: JMI
https://www.readbyqxmd.com/read/26107949/whole-exome-sequencing-reveals-novel-phex-splice-site-mutations-in-patients-with-hypophosphatemic-rickets
#7
Sara L Ma, Virginia Vega-Warner, Christopher Gillies, Matthew G Sampson, Vijay Kher, Sidharth K Sethi, Edgar A Otto
OBJECTIVE: Hypophosphatemic rickets (HR) is a heterogeneous genetic phosphate wasting disorder. The disease is most commonly caused by mutations in the PHEX gene located on the X-chromosome or by mutations in CLCN5, DMP1, ENPP1, FGF23, and SLC34A3. The aims of this study were to perform molecular diagnostics for four patients with HR of Indian origin (two independent families) and to describe their clinical features. METHODS: We performed whole exome sequencing (WES) for the affected mother of two boys who also displayed the typical features of HR, including bone malformations and phosphate wasting...
2015: PloS One
https://www.readbyqxmd.com/read/25165185/genetic-diseases-of-renal-phosphate-handling
#8
REVIEW
Carsten A Wagner, Isabel Rubio-Aliaga, Jürg Biber, Nati Hernando
UNLABELLED: Renal control of systemic phosphate homeostasis is critical as evident from inborn and acquired diseases causing renal phosphate wasting. At least three transport proteins are responsible for renal phosphate reabsorption: NAPI-IIa (SLC34A1), NAPI-IIc (SLC34A3) and PIT-2 (SLC20A2). These transporters are highly regulated by various cellular mechanisms and factors including acid-base status, electrolyte balance and hormones such as dopamine, glucocorticoids, growth factors, vitamin D3, parathyroid hormone and fibroblast growth factor 23 (FGF23)...
September 2014: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/24944247/phosphate-absorption-across-multiple-epithelia-in-the-pacific-hagfish-eptatretus-stoutii
#9
Aaron G Schultz, Samuel C Guffey, Alexander M Clifford, Greg G Goss
Inorganic phosphate (Pi) is an essential nutrient for all organisms, but in seawater, Pi is a limiting nutrient. This study investigated the primary mechanisms of Pi uptake in Pacific hagfish (Eptatretus stoutii) using ex vivo physiological and molecular techniques. Hagfish were observed to have the capacity to absorb Pi from the environment into at least three epithelial surfaces: the intestine, skin, and gill. Pi uptake in all tissues was concentration dependent, and saturable Pi transport was observed in the skin and gill at <2...
September 15, 2014: American Journal of Physiology. Regulatory, Integrative and Comparative Physiology
https://www.readbyqxmd.com/read/24924704/association-between-compound-heterozygous-mutations-of-slc34a3-and-hypercalciuria
#10
Yuki Abe, Keisuke Nagasaki, Toru Watanabe, Tokinari Abe, Maki Fukami
BACKGROUND: Mutations in SLC34A3 have been shown to cause hereditary hypophosphatemic rickets with hypercalciuria (HHRH). Patients with compound heterozygous or homozygous mutations develop skeletal lesions in addition to hypercalciuria, hypophosphatemia and/or elevated 1,25-dihydroxy vitamin D [1,25-(OH)2D] levels. Here, we report a case of hypercalciuria without skeletal lesions in a patient with compound heterozygous mutations of SLC34A3. CASE PRESENTATION: A 3-year-old girl presented with microscopic hematuria...
2014: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/24700880/mutations-in-slc34a3-npt2c-are-associated-with-kidney-stones-and-nephrocalcinosis
#11
Debayan Dasgupta, Mark J Wee, Monica Reyes, Yuwen Li, Peter J Simm, Amita Sharma, Karl-Peter Schlingmann, Marco Janner, Andrew Biggin, Joanna Lazier, Michaela Gessner, Dionisios Chrysis, Shamir Tuchman, H Jorge Baluarte, Michael A Levine, Dov Tiosano, Karl Insogna, David A Hanley, Thomas O Carpenter, Shoji Ichikawa, Bernd Hoppe, Martin Konrad, Lars Sävendahl, Craig F Munns, Hang Lee, Harald Jüppner, Clemens Bergwitz
Compound heterozygous and homozygous (comp/hom) mutations in solute carrier family 34, member 3 (SLC34A3), the gene encoding the sodium (Na(+))-dependent phosphate cotransporter 2c (NPT2c), cause hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a disorder characterized by renal phosphate wasting resulting in hypophosphatemia, correspondingly elevated 1,25(OH)2 vitamin D levels, hypercalciuria, and rickets/osteomalacia. Similar, albeit less severe, biochemical changes are observed in heterozygous (het) carriers and indistinguishable from those changes encountered in idiopathic hypercalciuria (IH)...
October 2014: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/24553430/renal-specific-and-inducible-depletion-of-napi-iic-slc34a3-the-cotransporter-mutated-in-hhrh-does-not-affect-phosphate-or-calcium-homeostasis-in-mice
#12
Komuraiah Myakala, Sarah Motta, Heini Murer, Carsten A Wagner, Robert Koesters, Jürg Biber, Nati Hernando
The proximal renal epithelia express three different Na-dependent inorganic phosphate (Pi) cotransporters: NaPi-IIa/SLC34A1, NaPi-IIc/SLC34A3, and PiT2/SLC20A2. Constitutive mouse knockout models of NaPi-IIa and NaPi-IIc suggested that NaPi-IIa mediates the bulk of renal reabsorption of Pi whereas the contribution of NaPi-IIc to this process is minor and probably restricted to young mice. However, many reports indicate that mutations of NaPi-IIc in humans lead to hereditary hypophosphatemic rickets with hypercalciuria (HHRH)...
April 15, 2014: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/24352629/the-slc34-family-of-sodium-dependent-phosphate-transporters
#13
REVIEW
Carsten A Wagner, Nati Hernando, Ian C Forster, Jürg Biber
The SLC34 family of sodium-driven phosphate cotransporters comprises three members: NaPi-IIa (SLC34A1), NaPi-IIb (SLC34A2), and NaPi-IIc (SLC34A3). These transporters mediate the translocation of divalent inorganic phosphate (HPO4 (2-)) together with two (NaPi-IIc) or three sodium ions (NaPi-IIa and NaPi-IIb), respectively. Consequently, phosphate transport by NaPi-IIa and NaPi-IIb is electrogenic. NaPi-IIa and NaPi-IIc are predominantly expressed in the brush border membrane of the proximal tubule, whereas NaPi-IIb is found in many more organs including the small intestine, lung, liver, and testis...
January 2014: Pflügers Archiv: European Journal of Physiology
https://www.readbyqxmd.com/read/24246249/a-compound-heterozygous-mutation-in-slc34a3-causes-hereditary-hypophosphatemic-rickets-with-hypercalciuria-in-a-chinese-patient
#14
Yue Chi, Zhen Zhao, Xiaodong He, Yue Sun, Yan Jiang, Mei Li, Ou Wang, Xiaoping Xing, Andrew Y Sun, Xueying Zhou, Xunwu Meng, Weibo Xia
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare metabolic disorder inherited in an autosomal recessive fashion and characterized by hypophosphatemia, short stature, rickets and/or osteomalacia, and secondary absorptive hypercalciuria. HHRH was recently mapped to chromosome 9q34, which contains the gene SLC34A3 which encodes the renal proximal tubular sodium-phosphate cotransporter NaPi-IIc. Here we describe a 29-year-old man with a history of childhood rickets who presented with increased renal phosphate clearance leading to hypophosphatemia, hypercalciuria, low serum parathyroid hormone (PTH), elevated serum 1,25-dihydroxyvitamin D (1,25(OH)2D) and recurrent nephrolithiasis...
February 2014: Bone
https://www.readbyqxmd.com/read/24176905/intronic-deletions-in-the-slc34a3-gene-a-cautionary-tale-for-mutation-analysis-of-hereditary-hypophosphatemic-rickets-with-hypercalciuria
#15
Shoji Ichikawa, Shamir Tuchman, Leah R Padgett, Amie K Gray, H Jorge Baluarte, Michael J Econs
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare metabolic disorder, characterized by hypophosphatemia, variable degrees of rickets/osteomalacia, and hypercalciuria secondary to increased serum 1,25-dihydroxyvitamin D [1,25(OH)2D] levels. HHRH is caused by mutations in the SLC34A3 gene, which encodes sodium-phosphate co-transporter type IIc. A 6-1/2-year-old female presented with a history of nephrolithiasis. Her metabolic evaluation revealed increased 24-hour urine calcium excretion with high serum calcium, low intact parathyroid hormone (PTH), and elevated 1,25(OH)2D...
February 2014: Bone
https://www.readbyqxmd.com/read/24076642/-updates-on-rickets-and-osteomalacia-the-role-of-napi-2c-slc34a3-and-hypophosphataemic-rickets
#16
REVIEW
Hiroko Segawa, Yuji Shiozaki, Sakura Minoshima, Ken-ichi Miyamoto
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) , an autosomal recessive disorder first identified in a large Bedouin tribe, is characterized by hypophosphatemia secondary to renal inorganic phosphate (Pi) wasting, resulting in increased serum1,25-dihydroxyvitamin D3 concentrations with associated intestinal calcium hyperabsorption, hypercalciuria, rickets, and osteomalacia. Recent studies identified several mutations in the NaPi-2c/NPT2c transporter gene (SLC34A3) as the cause of HHRH. The fact that HHRH is caused by NaPi-2c loss-of-function mutations is compatible with the HHRH phenotype and the prevailing view of renal Pi regulation...
October 2013: Clinical Calcium
https://www.readbyqxmd.com/read/23515872/conferring-electrogenicity-to-the-electroneutral-phosphate-cotransporter-napi-iic-slc34a3-reveals-an-internal-cation-release-step
#17
Monica Patti, Chiara Ghezzi, Ian C Forster
The SLC34 family of Na(+)-dependent inorganic phosphate cotransporters comprises two electrogenic isoforms (NaPi-IIa, NaPi-IIb) and an electroneutral isoform (NaPi-IIc). Both fulfill essential physiological roles in mammalian phosphate homeostasis. By substitution of three conserved amino acids, found in all electrogenic isoforms, at corresponding sites in NaPi-IIc, electrogenicity was re-established and the Na(+)/P i stoichiometry increased from 2:1 to 3:1. However, this engineered electrogenic construct (AAD-IIc) had a reduced apparent P i affinity and different presteady-state kinetics from the wild-type NaPi-IIa/b...
September 2013: Pflügers Archiv: European Journal of Physiology
https://www.readbyqxmd.com/read/23506879/phosphate-transporters-of-the-slc20-and-slc34-families
#18
REVIEW
Ian C Forster, Nati Hernando, Jürg Biber, Heini Murer
Transport of inorganic phosphate (Pi) across the plasma membrane is essential for normal cellular function. Members of two families of SLC proteins (SLC20 and SLC34) act as Na(+)-dependent, secondary-active cotransporters to transport Pi across cell membranes. The SLC34 proteins are expressed in specific organs important for Pi homeostasis: NaPi-IIa (SLC34A1) and NaPi-IIc (SLC34A3) fulfill essential roles in Pi reabsorption in the kidney proximal tubule and NaPi-IIb (SLC34A2) mediates Pi absorption in the gut...
April 2013: Molecular Aspects of Medicine
https://www.readbyqxmd.com/read/23246670/novel-slc34a3-mutation-causing-hereditary-hypophosphataemic-rickets-with-hypercalciuria-in-a-gambian-family
#19
Vickie Braithwaite, John M Pettifor, Ann Prentice
Three siblings, aged 12, 4 and 2 years, presented at a Gambian clinic with bone deformities. Radiographs of knees and wrists confirmed the presence of florid rickets. The family (including 2 unaffected siblings and the mother) were investigated for hereditary rickets. The three affected siblings had biochemical features of hereditary hypophosphataemic rickets with hypercalciuria (HHRH) with normal plasma calcium and 25-hydroxyvitamin D concentrations, elevated 1,25-dihydroxyvitamin D, hypophosphataemia, hyperphosphaturia and hypercalciuria...
March 2013: Bone
https://www.readbyqxmd.com/read/22806288/hereditary-hypophosphatemic-rickets-with-hypercalciuria-case-report
#20
Ramón Areses-Trapote, Juan A López-García, Mercedes Ubetagoyena-Arrieta, Antxon Eizaguirre, Raquel Sáez-Villaverde
We report a case of a male aged 50 years who consulted for renal disease recurrent lithiasis and nephrocalcinosis. The clinical examination showed external signs of rickets/osteomalacia and biochemical data as well as a severe loss of renal phosphate with hypophosphatemia, normal 25 OH vitamin D, high 1,25 OH vitamin D and hypercalciuria. Parathyroid hormone was low and renal ultrasound confirmed the existence of severe bilateral medullary nephrocalcinosis. They also found incipient chronic renal failure and incomplete renal tubular acidosis, both secondary to nephrocalcinosis and unrelated to the underlying disease...
July 17, 2012: Nefrología: Publicación Oficial de la Sociedad Española Nefrologia
keyword
keyword
81370
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"