Institution
Children's of Alabama
Healthcare•Birmingham, Alabama, United States•
About: Children's of Alabama is a healthcare organization based out in Birmingham, Alabama, United States. It is known for research contribution in the topics: Population & Transplantation. The organization has 2944 authors who have published 3814 publications receiving 108816 citations.
Papers published on a yearly basis
Papers
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TL;DR: Two genes causing pseudohypoaldosteronism type II, a Mendelian trait featuring hypertension, increased renal salt reabsorption, and impaired K+ and H+ excretion are identified.
Abstract: Hypertension is a major public health problem of largely unknown cause. Here, we identify two genes causing pseudohypoaldosteronism type II, a Mendelian trait featuring hypertension, increased renal salt reabsorption, and impaired K+ and H+ excretion. Both genes encode members of the WNK family of serine-threonine kinases. Disease-causing mutations in WNK1 are large intronic deletions that increase WNK1 expression. The mutations in WNK4 are missense, which cluster in a short, highly conserved segment of the encoded protein. Both proteins localize to the distal nephron, a kidney segment involved in salt, K+, and pH homeostasis. WNK1 is cytoplasmic, whereas WNK4 localizes to tight junctions. The WNK kinases and their associated signaling pathway(s) may offer new targets for the development of antihypertensive drugs.
1,363 citations
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TL;DR: Insight is provided into Mg2+ homeostasis, the role of a tight junction protein in human disease is demonstrated, and an essential component of a selective paracellular conductance is identified.
Abstract: Epithelia permit selective and regulated flux from apical to basolateral surfaces by transcellular passage through cells or paracellular flux between cells. Tight junctions constitute the barrier to paracellular conductance; however, little is known about the specific molecules that mediate paracellular permeabilities. Renal magnesium ion (Mg2+) resorption occurs predominantly through a paracellular conductance in the thick ascending limb of Henle (TAL). Here, positional cloning has identified a human gene, paracellin-1 ( PCLN-1 ), mutations in which cause renal Mg2+ wasting. PCLN-1 is located in tight junctions of the TAL and is related to the claudin family of tight junction proteins. These findings provide insight into Mg2+homeostasis, demonstrate the role of a tight junction protein in human disease, and identify an essential component of a selective paracellular conductance.
1,077 citations
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Istituto Giannina Gaslini1, Utrecht University2, McGill University3, University of Glasgow4, La Trobe University5, University of Melbourne6, Harvard University7, Boston Children's Hospital8, Royal Children's Hospital9, University of Oxford10, University of Western Australia11, Princess Margaret Hospital for Children12, University of Washington13, University of Minnesota14, University of Colorado Denver15, Children's of Alabama16, University of Groningen17
TL;DR: This trial found no evidence that just under an hour of sevoflurane anaesthesia in infancy increases the risk of adverse neurodevelopmental outcome at two years of age compared to RA.
839 citations
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TL;DR: The results provide evidence for the role of EIF2AK3 in WRS and may provide insight into the understanding of the more common forms of diabetes and other pathologic manifestations of WRS.
Abstract: Wolcott-Rallison syndrome (WRS) is a rare, autosomal recessive disorder characterized by permanent neonatal or early infancy insulin-dependent diabetes. Epiphyseal dysplasia, osteoporosis and growth retardation occur at a later age. Other frequent multisystemic manifestations include hepatic and renal dysfunction, mental retardation and cardiovascular abnormalities1,2,3,4,5. On the basis of two consanguineous families, we mapped WRS to a region of less than 3 cM on chromosome 2p12, with maximal evidence of linkage and homozygosity at 4 microsatellite markers within an interval of approximately 1 cM. The gene encoding the eukaryotic translation initiation factor 2-α kinase 3 (EIF2AK3) resides in this interval; thus we explored it as a candidate. We identified distinct mutations of EIF2AK3 that segregated with the disorder in each of the families. The first mutation produces a truncated protein in which the entire catalytic domain is missing. The other changes an amino acid, located in the catalytic domain of the protein, that is highly conserved among kinases from the same subfamily. Our results provide evidence for the role of EIF2AK3 in WRS. The identification of this gene may provide insight into the understanding of the more common forms of diabetes and other pathologic manifestations of WRS.
795 citations
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Guy's and St Thomas' NHS Foundation Trust1, John Radcliffe Hospital2, University of Nottingham3, Brigham and Women's Hospital4, ISMETT5, Banaras Hindu University6, Newton Wellesley Hospital7, Madras Institute of Orthopaedics and Traumatology8, University of the West Indies9, University of Michigan10, Sahlgrenska University Hospital11, Queen Mary University of London12, Aga Khan University13, University of Manchester14, Virginia Commonwealth University15, University of Padua16, Changi General Hospital17, King's College London18, Southampton General Hospital19, Texas Tech University Health Sciences Center20, McMaster University21, University Hospital Waterford22, Turku University Hospital23, University of Mainz24, Bezmialem Foundation University25, Colchester Hospital University NHS Foundation Trust26, Kent State University27, Guy's Hospital28, Cairo University29, Children's of Alabama30
TL;DR: The development of the STROCSS guideline (Strengthening the Reporting of Cohort Studies in Surgery), consisting of a 17-item checklist, is described and it is hoped its use will increase the transparency and reporting quality of such studies.
736 citations
Authors
Showing all 2946 results
Name | H-index | Papers | Citations |
---|---|---|---|
David H. Adams | 155 | 1613 | 117783 |
David B. Dunger | 110 | 703 | 55784 |
Richard J. Whitley | 103 | 516 | 44049 |
Robert H. Anderson | 97 | 1237 | 41250 |
Anders Juul | 85 | 549 | 28002 |
David M. Hunt | 84 | 448 | 26474 |
Smita Bhatia | 82 | 479 | 21882 |
Andrew J. Pollard | 79 | 673 | 26295 |
Deirdre A. Lane | 79 | 362 | 29905 |
Sarah C. Darby | 77 | 244 | 57679 |
Mark Lunt | 77 | 391 | 20723 |
William J. Britt | 76 | 255 | 21475 |
Andrew O.M. Wilkie | 72 | 251 | 19018 |
John E. Lochman | 71 | 282 | 16554 |
Michael C. Stevens | 69 | 285 | 15525 |