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SLC20A2

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https://www.readbyqxmd.com/read/29627011/inorganic-phosphorus-pi-in-csf-is-a-biomarker-for-slc20a2-associated-idiopathic-basal-ganglia-calcification-ibgc1
#1
Isao Hozumi, Hisaka Kurita, Kazuhiro Ozawa, Nobuyuki Furuta, Masatoshi Inden, Shin-Ichiro Sekine, Megumi Yamada, Yuichi Hayashi, Akio Kimura, Takashi Inuzuka, Mitsuru Seishima
INTRODUCTION: Idiopathic basal ganglia calcification (IBGC), also called Fahr's disease or recently primary familial brain calcification (PFBC), is characterized by abnormal deposits of minerals including calcium mainly and phosphate in the brain. Mutations in SLC20A2 (IBGC1 (merged with former IBGC2 and IBGC3)), which encodes PiT-2, a phosphate transporter, is the major cause of IBGC. Recently, Slc20a2-KO mice have been showed to have elevated levels of inorganic phosphorus (Pi) in cerebrospinal fluid (CSF); however, CSF Pi levels in patients with IBGC have not been fully examined...
May 15, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29578123/a-novel-slc20a2-mutation-associated-with-familial-idiopathic-basal-ganglia-calcification-and-analysis-of-the-genotype-phenotype-association-in-chinese-patients
#2
Yan Ding, Hui-Qing Dong
Background: Idiopathic basal ganglia calcification (IBGC) is a genetic disorder characterized by bilateral basal ganglia calcification and neural degeneration. In this study, we reported a new SLC2OA2 mutation of IBGC and reviewed relevant literature to explore the association between phenotypes and genotypes in Chinese IBGC patients. Methods: Clinical information of the proband and her relatives were collected comprehensively. Blood samples of both the patient and her father were obtained, and genetic screening related to IBGC was performed using second generation sequencing with their consent...
April 5, 2018: Chinese Medical Journal
https://www.readbyqxmd.com/read/29551636/phosphate-dependent-fgf23-secretion-is-modulated-by-pit2-slc20a2
#3
Nina Bon, Giulia Frangi, Sophie Sourice, Jérôme Guicheux, Sarah Beck-Cormier, Laurent Beck
OBJECTIVE: The canonical role of the bone-derived fibroblast growth factor 23 (Fgf23) is to regulate the serum inorganic phosphate (Pi) level. As part of a feedback loop, serum Pi levels control Fgf23 secretion through undefined mechanisms. We recently showed in vitro that the two high-affinity Na+ -Pi co-transporters PiT1/Slc20a1 and PiT2/Slc20a2 were required for mediating Pi-dependent signaling. Here, we addressed the contribution of PiT1 and PiT2 to the regulation of Fgf23 secretion...
February 26, 2018: Molecular Metabolism
https://www.readbyqxmd.com/read/29448117/refractory-focal-epilepsy-in-a-paediatric-patient-with-primary-familial-brain-calcification
#4
Juliet K Knowles, Jonathan D Santoro, Brenda E Porter, Fiona M Baumer
Primary familial brain calcification (PFBC), otherwise known as Fahr's disease, is a rare autosomal dominant condition with manifestations of movement disorders, neuropsychiatric symptoms, and epilepsy in a minority of PFBC patients. The clinical presentation of epilepsy in PFBC has not been described in detail. We present a paediatric patient with PFBC and refractory focal epilepsy based on seizure semiology and ictal EEG, but with generalized interictal EEG abnormalities. The patient was found to have a SLC20A2 mutation known to be pathogenic in PFBC, as well as a variant of unknown significance in SCN2A...
February 6, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29351787/scl20a2-mutation-presenting-with-acute-ischemic-stroke-a-case-report
#5
Xiaoyu Zhang, Gaoting Ma, Zhangning Zhao, Meijia Zhu
BACKGROUND: Primary familial brain calcification (PFBC) is a rare disorder characterized by distinctive bilateral brain calcification and variable clinical presentations. However, cerebrovascular attack was rarely reported in PFBC patients. We here reported a SLC20A2 mutation patient presenting with acute ischemic stroke. CASE PRESENTATION: A 56 years old man was transferred to our hospital because of 6 days of melena and 3 days of somnolence, agitation and mood changes...
January 19, 2018: BMC Neurology
https://www.readbyqxmd.com/read/29325620/primary-familial-brain-calcifications
#6
Beatriz Quintáns, Joao Oliveira, María-Jesús Sobrido
Primary familial brain calcification (PFBC) is a neurodegenerative disease with characteristic calcium deposits in the basal ganglia and other brain regions. The disease usually presents as a combination of abnormal movements, cognitive and psychiatric manifestations, clinically indistinguishable from other adult-onset neurodegenerative disorders. The differential diagnosis must be established with genetic and nongenetic disorders that can also lead to calcium deposits in encephalic structures. In the past years PFBC causal mutations have been discovered in genes related to calcium phosphate homeostasis (SLC20A2, XPR1) and in genes involved with endothelial function and integrity (PDGFB, PDGFRB)...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29275531/renal-phosphate-handling-and-inherited-disorders-of-phosphate-reabsorption-an-update
#7
REVIEW
Carsten A Wagner, Isabel Rubio-Aliaga, Nati Hernando
Renal phosphate handling critically determines plasma phosphate and whole body phosphate levels. Filtered phosphate is mostly reabsorbed by Na+ -dependent phosphate transporters located in the brush border membrane of the proximal tubule: NaPi-IIa (SLC34A1), NaPi-IIc (SLC34A3), and Pit-2 (SLC20A2). Here we review new evidence for the role and relevance of these transporters in inherited disorders of renal phosphate handling. The importance of NaPi-IIa and NaPi-IIc for renal phosphate reabsorption and mineral homeostasis has been highlighted by the identification of mutations in these transporters in a subset of patients with infantile idiopathic hypercalcemia and patients with hereditary hypophosphatemic rickets with hypercalciuria...
December 23, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29233890/phosphate-p-i-regulated-heterodimerization-of-the-high-affinity-sodium-dependent-p-i-transporters-pit1-slc20a1-and-pit2-slc20a2-underlies-extracellular-p-i-sensing-independently-of-p-i-uptake
#8
Nina Bon, Greig Couasnay, Annabelle Bourgine, Sophie Sourice, Sarah Beck-Cormier, Jérôme Guicheux, Laurent Beck
Extracellular phosphate (Pi ) can act as a signaling molecule that directly alters gene expression and cellular physiology. The ability of cells or organisms to detect changes in extracellular Pi levels implies the existence of a Pi -sensing mechanism that signals to the body or individual cell. However, unlike in prokaryotes, yeasts, and plants, the molecular players involved in Pi sensing in mammals remain unknown. In this study, we investigated the involvement of the high-affinity, sodium-dependent Pi transporters PiT1 and PiT2 in mediating Pi signaling in skeletal cells...
February 9, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29152850/estimation-of-minimal-disease-prevalence-from-population-genomic-data-application-to-primary-familial-brain-calcification
#9
Gaël Nicolas, Camille Charbonnier, Dominique Campion, Joris A Veltman
Primary Familial Brain Calcification (PFBC) is a rare calcifying disorder of the brain with autosomal dominant inheritance, of unknown prevalence. Four causal genes have been identified so far: SLC20A2, PDGFB, PDGFRB, and XPR1, with pathogenic, probably pathogenic or missense variants of unknown significance found in 27.7% probands in the French PFBC series. Estimating PFBC prevalence from a clinical input is arduous due to a large diversity of symptoms and ages of onset and to incomplete clinical penetrance...
January 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29034894/induced-pluripotent-stem-cells-derived-from-a-patient-with-familial-idiopathic-basal-ganglia-calcification-ibgc-caused-by-a-mutation-in-slc20a2-gene
#10
Shin-Ichiro Sekine, Takayuki Kondo, Nagahisa Murakami, Keiko Imamura, Takako Enami, Ran Shibukawa, Kayoko Tsukita, Misato Funayama, Masatoshi Inden, Hisaka Kurita, Isao Hozumi, Haruhisa Inoue
Idiopathic basal ganglia calcification (IBGC), also known as Fahr disease or primary familial brain calcifications (PFBC), is a rare neurodegenerative disorder characterized by calcium deposits in basal ganglia and other brain regions, causing neuropsychiatric and motor symptoms. We established human induced pluripotent stem cells (iPSCs) from an IBGC patient. The established IBGC-iPSCs carried SLC20A2 c.1848G>A mutation (p.W616* of translated protein PiT2), and also showed typical iPSC morphology, pluripotency markers, normal karyotype, and the ability of in vitro differentiation into three-germ layers...
October 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28935882/clinical-and-radiological-diversity-in-genetically-confirmed-primary-familial-brain-calcification
#11
Shingo Koyama, Hidenori Sato, Ryota Kobayashi, Shinobu Kawakatsu, Masayuki Kurimura, Manabu Wada, Toru Kawanami, Takeo Kato
Primary familial brain calcification (PFBC) is a rare neuropsychiatric disorder with characteristic symmetrical brain calcifications. Patients with PFBC may have a variety of symptoms, although they also may be clinically asymptomatic. Parkinsonism is one of the most common movement disorders; however, the underlying mechanism remains unclear. This condition is typically transmitted in an autosomal dominant fashion. To date, mutations in SLC20A2, PDGFRB, PDGFB, and XPR1 have been reported to cause PFBC. The aim of the study was to identify the genetic cause of brain calcification in probands from three PFBC families and in 8 sporadic patients and to perform clinical and radiological assessments focusing on parkinsonism in mutation carriers...
September 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28892649/expression-of-phosphate-transporters-during-dental-mineralization
#12
L Merametdjian, S Beck-Cormier, N Bon, G Couasnay, S Sourice, J Guicheux, C Gaucher, L Beck
The importance of phosphate (Pi) as an essential component of hydroxyapatite crystals suggests a key role for membrane proteins controlling Pi uptake during mineralization in the tooth. To clarify the involvement of the currently known Pi transporters (Slc17a1, Slc34a1, Slc34a2, Slc34a3, Slc20a1, Slc20a2, and Xpr1) during tooth development and mineralization, we determined their spatiotemporal expression in murine tooth germs from embryonic day 14.5 to postnatal day 15 and in human dental samples from Nolla stages 6 to 9...
February 2018: Journal of Dental Research
https://www.readbyqxmd.com/read/28766044/analysis-of-gene-expression-and-functional-characterization-of-xpr1-a-pathogenic-gene-for-primary-familial-brain-calcification
#13
Xiang-Ping Yao, Miao Zhao, Chong Wang, Xin-Xin Guo, Hui-Zhen Su, En-Lin Dong, Hai-Ting Chen, Jing-Hui Lai, Yao-Bin Liu, Ning Wang, Wan-Jin Chen
Primary familial brain calcification (PFBC) is a neuropsychiatric disorder characterized by bilateral cerebral calcification with diverse neurologic or psychiatric symptoms. Recently, XPR1 variation has accounted for PFBC as another new causative gene. However, little is known about the distribution and basic function of XPR1 and its interaction with the other three pathogenic genes for PFBC (SLC20A2, PDGFRB and PDGFB). The aim of this study was to further clarify the role of XPR1 in PFBC brain pathology. As a result, gene expression profiles showed that XPR1 mRNA was widely expressed throughout the mouse brain...
November 2017: Cell and Tissue Research
https://www.readbyqxmd.com/read/28722801/primary-familial-brain-calcification-with-a-novel-slc20a2-mutation-analysis-of-pit-2-expression-and-localization
#14
Ilaria Taglia, Patrizia Formichi, Carla Battisti, Giulia Peppoloni, Melissa Barghigiani, Alessandra Tessa, Antonio Federico
Primary familial brain calcification (PFBC) is an autosomal dominant rare disorder characterized by bilateral and symmetric brain calcifications, and neuropsychiatric manifestations. Four genes have been linked to PFBC: SLC20A2, PDGFRB, PDGFB, and XPR1. In this study, we report molecular and clinical data of a PFBC patient carrying a novel SLC20A2 mutation and we investigate the impact of the mutation on PiT-2 expression and function. Sanger sequencing of SLC20A2, PDGFRB, PDGFB, XPR1 led to the identification of a novel duplication of twelve nucleotides (c...
March 2018: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28720798/neuroprotective-effect-of-5-aminolevulinic-acid-against-low-inorganic-phosphate-in-neuroblastoma-sh-sy5y-cells
#15
Naoko Takase, Masatoshi Inden, Shin-Ichiro Sekine, Yumi Ishii, Hiroko Yonemitsu, Wakana Iwashita, Hisaka Kurita, Yutaka Taketani, Isao Hozumi
PiT-1 (encoded by SLC20A1) and PiT-2 (encoded by SLC20A2) are type-III sodium-dependent phosphate cotransporters (NaPiTs). Recently, SLC20A2 mutations have been found in patients with idiopathic basal ganglia calcification (IBGC), and were predicted to bring about an inability to transport Pi from the extracellular environment. Here we investigated the effect of low Pi loading on the human neuroblastoma SH-SY5Y and the human glioblastoma A172 cell lines. The results show a different sensitivity to low Pi loading and differential regulation of type-III NaPiTs in these cells...
July 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28609135/primary-familial-brain-calcifications-linked-with-a-novel-slc20a2-gene-mutation-in-a-chinese-family
#16
Tao-Mian Mi, Wei Mao, Yan-Ning Cai, Cai-Xia Yang, Chao-Dong Wang, Er-He Xu, Hui Zhang, Piu Chan
It has been recently reported that mutations in SLC20A2 gene are a major cause of primary familial brain calcifications, a rare neurodegenerative disorder characterized by symmetrical and bilateral intracranial calcification. We conducted a pedigree study by performing next Generation Sequencing in a Chinese family with three generations. Three members in this family developed Parkinsonism in their sixth decade, also, the proband presented with schizophrenia for 40 years. Next Generation Sequencing identified a novel nonsense heterozygous substitution c...
September 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/28578517/phosphate-transporters-expression-in-patients-with-primary-familial-brain-calcifications
#17
L F Pimentel, R R Lemos, J R Oliveira
Primary familial brain calcification (PFBC), formerly known as Fahr disease, is a rare neurological disorder characterized by extensive calcification deposits in the brain. So far, four genes have been reported with variations associated with PFBC, SLC20A2, PDGFβ, PDGFRβ, and XPR1. Using real-time qPCR, we analyzed the expression of three inorganic phosphate (Pi) transporters (SLC20A1, SLC20A2, and XPR1) in patients with PFBC. Our results showed a significant reduction (~40%) of SLC20A2 expression in the patients carrying mutation whereas no significant change was observed within the patients without known mutations...
August 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/28303467/mir-9-5p-down-regulates-pit2-but-not-pit1-in-human-embryonic-kidney-293-cells
#18
D P Paiva, M Keasey, J R M Oliveira
Inorganic phosphate (Pi) is an essential component for structure and metabolism. PiT1 (SLC20A1) and PiT2 (SLC20A2) are members of the mammalian type-III inorganic phosphate transporters. SLC20A2 missense variants are associated with primary brain calcification. MicroRNAs (miRNAs) are endogenous noncoding regulatory RNAs, which play important roles in post-transcriptional gene regulation. MicroRNA-9 (miR-9) acts at different stages of neurogenesis, is deeply rooted in gene networks controlling the regulation of neural progenitor proliferation, and is also linked with cancers outside the nervous system...
May 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/28298627/novel-mutations-of-pdgfrb-cause-primary-familial-brain-calcification-in-chinese-families
#19
Chong Wang, Xiang-Ping Yao, Hai-Ting Chen, Jing-Hui Lai, Xin-Xin Guo, Hui-Zhen Su, En-Lin Dong, Qi-Jie Zhang, Ning Wang, Wan-Jin Chen
Four causative genes, including solute carrier family 20 member 2 (SLC20A2), platelet-derived growth factor receptor b (PDGFRB), platelet-derived growth factor b (PDGFB)and xenotropic and polytropic retrovirus receptor 1 (XPR1), have been identified to cause primary familial brain calcification (PFBC). However, PDGFRB mutations seem to be quite rare and no PDGFRB mutations have been reported in Chinese PFBC patients. A total of 146 PFBC patients including 12 families and 134 sporadic patients were recruited in this study...
July 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28162874/deconstructing-fahr-s-disease-syndrome-of-brain-calcification-in-the-era-of-new-genes
#20
REVIEW
Amit Batla, Xin You Tai, Lucia Schottlaender, Robert Erro, Bettina Balint, Kailash P Bhatia
INTRODUCTION: There are now a number genes, known to be associated with familial primary brain calcification (PFBC), causing the so called 'Fahr's' disease or syndrome. These are SCL20A2, PDGFB, PDGFRB and XPR1. In this systematic review, we analyse the clinical and radiological features reported in genetically confirmed cases with PFBC. We have additionally reviewed pseudohypoparathyroidism which is a close differential diagnosis of PFBC in clinical presentation and is also genetically determined...
April 2017: Parkinsonism & related Disorders
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