Literature DB >> 28079058

Of dogs and men.

Detlef Bockenhauer1, Robert Kleta1.   

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Year:  2017        PMID： 28079058      PMCID： PMC5255959          DOI： 10.1038/ejhg.2016.161

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  9 in total

1.  Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.

Authors:  Detlef Bockenhauer; Sally Feather; Horia C Stanescu; Sascha Bandulik; Anselm A Zdebik; Markus Reichold; Jonathan Tobin; Evelyn Lieberer; Christina Sterner; Guida Landoure; Ruchi Arora; Tony Sirimanna; Dorothy Thompson; J Helen Cross; William van't Hoff; Omar Al Masri; Kjell Tullus; Stella Yeung; Yair Anikster; Enriko Klootwijk; Mike Hubank; Michael J Dillon; Dirk Heitzmann; Mauricio Arcos-Burgos; Mark A Knepper; Angus Dobbie; William A Gahl; Richard Warth; Eamonn Sheridan; Robert Kleta
Journal:  N Engl J Med       Date:  2009-05-07       Impact factor: 91.245

Review 2.  The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel.

Authors:  Sascha Bandulik; Katharina Schmidt; Detlef Bockenhauer; Anselm A Zdebik; Evelyn Humberg; Robert Kleta; Richard Warth; Markus Reichold
Journal:  Pflugers Arch       Date:  2011-01-11       Impact factor: 3.657

3.  KCNJ10 mutations disrupt function in patients with EAST syndrome.

Authors:  Bernard Freudenthal; Duvaraka Kulaveerasingam; Lokesh Lingappa; Mehul A Shah; Louise Brueton; Evangeline Wassmer; Milos Ognjanovic; Nathalie Dorison; Markus Reichold; Detlef Bockenhauer; Robert Kleta; Anselm A Zdebik
Journal:  Nephron Physiol       Date:  2011-08-18

4.  The novel homozygous KCNJ10 c.986T>C (p.(Leu329Pro)) variant is pathogenic for the SeSAME/EAST homologue in Malinois dogs.

Authors:  Mario Van Poucke; Kimberley Stee; Sofie F M Bhatti; An Vanhaesebrouck; Leslie Bosseler; Luc J Peelman; Luc Van Ham
Journal:  Eur J Hum Genet       Date:  2016-12-14       Impact factor: 4.246

5.  Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome.

Authors:  Fahad Mahmood; Monika Mozere; Anselm A Zdebik; Horia C Stanescu; Jonathan Tobin; Philip L Beales; Robert Kleta; Detlef Bockenhauer; Claire Russell
Journal:  Dis Model Mech       Date:  2013-02-14       Impact factor: 5.758

6.  Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.

Authors:  J Helen Cross; Ruchi Arora; Rolf A Heckemann; Roxana Gunny; Kling Chong; Lucinda Carr; Torsten Baldeweg; Ann-Marie Differ; Nicholas Lench; Sophie Varadkar; Tony Sirimanna; Evangeline Wassmer; Sally A Hulton; Milos Ognjanovic; Venkateswaran Ramesh; Sally Feather; Robert Kleta; Alexander Hammers; Detlef Bockenhauer
Journal:  Dev Med Child Neurol       Date:  2013-09       Impact factor: 5.449

7.  A homozygous KCNJ10 mutation in Jack Russell Terriers and related breeds with spinocerebellar ataxia with myokymia, seizures, or both.

Authors:  D Gilliam; D P O'Brien; J R Coates; G S Johnson; G C Johnson; T Mhlanga-Mutangadura; L Hansen; J F Taylor; R D Schnabel
Journal:  J Vet Intern Med       Date:  2014-04-07       Impact factor: 3.333

8.  Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome.

Authors:  Ola Abdelhadi; Daniela Iancu; Mehmet Tekman; Horia Stanescu; Detlef Bockenhauer; Robert Kleta
Journal:  Mol Genet Genomic Med       Date:  2016-06-07       Impact factor: 2.183

Review 9.  EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10.

Authors:  Ola Abdelhadi; Daniela Iancu; Horia Stanescu; Robert Kleta; Detlef Bockenhauer
Journal:  Rare Dis       Date:  2016-06-01
  9 in total
  2 in total

Review 1.  Salt-Losing Tubulopathies in Children: What's New, What's Controversial?

Authors:  Robert Kleta; Detlef Bockenhauer
Journal:  J Am Soc Nephrol       Date:  2017-12-13       Impact factor: 10.121

2.  Characterization of neurological disease progression in a canine model of CLN5 neuronal ceroid lipofuscinosis.

Authors:  Elizabeth J Meiman; Grace Robinson Kick; Cheryl A Jensen; Joan R Coates; Martin L Katz
Journal:  Dev Neurobiol       Date:  2022-04-28       Impact factor: 3.102
  2 in total

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