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10.1101/mcs.a001289 http://scihub22266oqcxt.onion/10.1101/mcs.a001289 27900370!5111002!27900370     free     free     free Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Cold+Spring+Harb+Mol+Case+Stud 2016 ; 2 (6): a001289 Nephropedia Template TP {{tp|p=27900370|t=2016. A patient with multisystem dysfunction carries a truncation mutation in human SLC12A2, the gene encoding the Na-K-2Cl cotransporter, NKCC1 |pdf=|usr=}}{{27900370}} gab.com Text A patient with multisystem dysfunction carries a truncation mutation in human SLC12A2, the gene encoding the Na-K-2Cl cotransporter, NKCC1 JO: Cold Spring Harb Mol Case Stud http://www.kidney.de/pget.php?&tw=1&pmid=27900370 #FOAvip This study describes a 13-yr-old girl with orthostatic intolerance, respiratory weakness, multiple endocrine abnormalities, pancreatic insufficiency, and multiorgan failure involving the gut and bladder. Exome sequencing revealed a de novo, loss-of-function allele in SLC12A2, the gene encoding the Na-K-2Cl cotransporter-1. The 11-bp deletion in exon 22 results in frameshift (p.Val1026Phefs*2) and truncation of the carboxy-terminal tail of the cotransporter. Preliminary studies in heterologous expression systems demonstrate that the mutation leads to a nonfunctional transporter, which is expressed and trafficked to the plasma membrane alongside wild-type NKCC1. The truncated protein, visible at higher molecular sizes, indicates either enhanced dimerization or misfolded aggregate. No significant dominant-negative effect was observed. K(+) transport experiments performed in fibroblasts from the patient showed reduced total and NKCC1-mediated K(+) influx. The absence of a bumetanide effect on K(+) influx in patient fibroblasts only under hypertonic conditions suggests a deficit in NKCC1 regulation. We propose that disruption in NKCC1 function might affect sensory afferents and/or smooth muscle cells, as their functions depend on NKCC1 creating a Cl(-) gradient across the plasma membrane. This Cl(-) gradient allows the gamma-aminobutyric acid (GABA) receptor or other Cl(-) channels to depolarize the membrane affecting processes such as neurotransmission or cell contraction. Under this hypothesis, disrupted sensory and smooth muscle function in a diverse set of tissues could explain the patient's phenotype. Twit Text FOAVip A patient with multisystem dysfunction carries a truncation mutation in human SLC12A2, the gene encoding the Na-K-2Cl cotransporter, NKCC1 ????Cold Spring Harb Mol Case Stud http://www.kidney.de/pget.php?&tw=1&pmid=27900370 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=27900370 #FOAvip English Wikipedia <ref>{{Cite pmid|27900370}}</ref> A patient with multisystem dysfunction carries a truncation mutation in human SLC12A2, the gene encoding the Na-K-2Cl cotransporter, NKCC1 #MMPMID27900370 Delpire E; Wolfe L; Flores B; Koumangoye R; Schornak CC; Omer S; Pusey B; Lau C; Markello T; Adams DR Cold Spring Harb Mol Case Stud 2016[Nov]; 2 (6): a001289 PMID27900370show ga This study describes a 13-yr-old girl with orthostatic intolerance, respiratory weakness, multiple endocrine abnormalities, pancreatic insufficiency, and multiorgan failure involving the gut and bladder. Exome sequencing revealed a de novo, loss-of-function allele in SLC12A2, the gene encoding the Na-K-2Cl cotransporter-1. The 11-bp deletion in exon 22 results in frameshift (p.Val1026Phefs*2) and truncation of the carboxy-terminal tail of the cotransporter. Preliminary studies in heterologous expression systems demonstrate that the mutation leads to a nonfunctional transporter, which is expressed and trafficked to the plasma membrane alongside wild-type NKCC1. The truncated protein, visible at higher molecular sizes, indicates either enhanced dimerization or misfolded aggregate. No significant dominant-negative effect was observed. K(+) transport experiments performed in fibroblasts from the patient showed reduced total and NKCC1-mediated K(+) influx. The absence of a bumetanide effect on K(+) influx in patient fibroblasts only under hypertonic conditions suggests a deficit in NKCC1 regulation. We propose that disruption in NKCC1 function might affect sensory afferents and/or smooth muscle cells, as their functions depend on NKCC1 creating a Cl(-) gradient across the plasma membrane. This Cl(-) gradient allows the gamma-aminobutyric acid (GABA) receptor or other Cl(-) channels to depolarize the membrane affecting processes such as neurotransmission or cell contraction. Under this hypothesis, disrupted sensory and smooth muscle function in a diverse set of tissues could explain the patient's phenotype. |Adolescent[MESH] |Alleles[MESH] |Carrier Proteins/genetics[MESH] |Cell Membrane/metabolism[MESH] |Chlorides/metabolism[MESH] |Exome Sequencing/methods[MESH] |Female[MESH] |Fibroblasts/metabolism[MESH] |Humans[MESH] |Mutation[MESH] |Sequence Deletion/genetics[MESH] |Sodium, Dietary/metabolism[MESH] |Sodium-Potassium-Chloride Symporters/genetics[MESH] |Sodium/metabolism[MESH]A patient with multisystem dysfunction carries a truncation mutation i(epmc).pdf DeepDyve Pubget Overpricing