Search Results - "FINBERG, K"
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Endometrial carcinoma as the presenting malignancy in an 18-year-old patient with Li-Fraumeni syndrome
Published in Gynecologic oncology (01-06-2016)Get full text
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The connecting tubule is the main site of the furosemide-induced urinary acidification by the vacuolar H+-ATPase
Published in Kidney international (01-11-2006)“…Final urinary acidification is achieved by electrogenic vacuolar H+-ATPases expressed in acid-secretory intercalated cells (ICs) in the connecting tubule (CNT)…”
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26 HUMANIZED MICE AFFORD EFFICIENT ENGRAFTMENT AND DISEASE REPLICATION OF MYELODYSPLASTIC SYNDROMES
Published in Leukemia research (01-04-2015)Get full text
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Large-scale analysis of gene expression, protein localization, and gene disruption in Saccharomyces cerevisiae
Published in Genes & development (01-05-1994)“…We have developed a large-scale screen to identify genes expressed at different times during the life cycle of Saccharomyces cerevisiae and to determine the…”
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Localization of a Gene for Autosomal Recessive Distal Renal Tubular Acidosis with Normal Hearing ( rdRTA2 ) to 7q33-34
Published in American journal of human genetics (01-12-1999)“…Failure of distal nephrons to excrete excess acid results in the “distal renal tubular acidoses” (dRTA). Early childhood features of autosomal recessive dRTA…”
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Mutations in the gene encoding B1 subunit of H + -ATPase cause renal tubular acidosis with sensorineural deafness
Published in Nature genetics (01-01-1999)“…H+-ATPases are ubiquitous in nature; V-ATPases pump protons against an electrochemical gradient, whereas F-ATPases reverse the process, synthesizing ATP. We…”
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Molecular cloning and characterization of Atp6n1b: a novel fourth murine vacuolar H+-ATPase a-subunit gene
Published in The Journal of biological chemistry (09-11-2001)“…The 116-kDa a-subunit of the vacuolar proton pump (H(+)-ATPase) exists as several isoforms encoded by different genes and with different patterns of tissue…”
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Genetic Heterogeneity of Inherited Cerebral Cavernous Malformation
Published in Neurosurgery (01-06-1996)“…Cerebral cavernous malformation (CCM) is frequently an inherited disorder showing autosomal dominant transmission. Genetic analysis has localized a gene…”
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Interactions of VirB9, -10, and -11 with the membrane fraction of Agrobacterium tumefaciens: solubility studies provide evidence for tight associations
Published in Journal of Bacteriology (01-09-1995)“…Article Usage Stats Services JB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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Mapping a Mendelian Form of Intracranial Aneurysm to 1p34.3-p36.13
Published in American journal of human genetics (01-01-2005)“…The identification of pathways that underlie common disease has been greatly impacted by the study of rare families that segregate single genes with large…”
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Mutations in the Na-Cl Cotransporter Reduce Blood Pressure in Humans
Published in Hypertension (Dallas, Tex. 1979) (01-06-2001)“…The relationship between salt homeostasis and blood pressure has remained difficult to establish from epidemiological studies of the general population…”
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Mice lacking the B1 subunit of H +-ATPase have normal hearing
Published in Hearing research (01-06-2003)“…Acid–base homeostasis of endolymph is thought to be essential for normal inner ear function. This assumption was supported by clinical data from individuals…”
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Renal Vacuolar H+-ATPase
Published in Physiological reviews (01-10-2004)“…Institute of Physiology, University of Zurich, Zurich, Switzerland; Departments of Genetics, Cellular and Molecular Physiology, and Surgery, School of…”
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A Founder Mutation as a Cause of Cerebral Cavernous Malformation in Hispanic Americans
Published in The New England journal of medicine (11-04-1996)“…Cerebral cavernous malformation is a vascular disorder of the brain characterized by abnormal vascular spaces lined by a single layer of endothelium without…”
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The effects of ACTH1-24 or cortisol on pulmonary maturation in the adrenalectomized ovine fetus
Published in Journal of developmental physiology (01-01-1985)“…Pulmonary maturation in 8 ovine fetuses bilaterally adrenalectomized at 98-101 days and infused at term with either ACTH1-24 or cortisol was compared with that…”
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The B1-Subunit of the H+ATPase Is Required for Maximal Urinary Acidification
Published in Proceedings of the National Academy of Sciences - PNAS (20-09-2005)“…The multisubunit vacuolar-type H+ATPases mediate acidification of various intracellular organelles and in some tissues mediate H+secretion across the plasma…”
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Regulation of the expression of the Cl-/anion exchanger pendrin in mouse kidney by acid-base status
Published in Kidney international (01-12-2002)“…Regulation of the expression of the Cl-/anion exchanger pendrin in mouse kidney by acid-base status. Pendrin belongs to a superfamily of Cl-/anion exchangers…”
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Localization and regulation of the ATP6V0A4 (a4) vacuolar H+-ATPase subunit defective in an inherited form of distal renal tubular acidosis
Published in Journal of the American Society of Nephrology (01-12-2003)“…Vacuolar-type H(+)-ATPases (V-H(+)-ATPases) are the major H(+)-secreting protein in the distal portion of the nephron and are involved in net H(+) secretion…”
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Genetic heterogeneity of inherited cerebral cavernous malformation. Commentaries
Published in Neurosurgery (1996)Get full text
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