Literature DB >> 19417552

Collectrin gene screening in Turner syndrome patients with kidney malformation.

L Pasquali1, G d'Annunzio, R Gastaldi, E Di Battista, V Calcaterra, D Larizza, R Lorini, E D'Amato.   

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Year:  2009        PMID： 19417552     DOI： 10.1007/s12041-009-0015-0

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  17 in total

Review 1.  Turner's syndrome.

Authors:  Virginia P Sybert; Elizabeth McCauley
Journal:  N Engl J Med       Date:  2004-09-16       Impact factor: 91.245

Review 2.  Imaging of horseshoe kidneys and their complications.

Authors:  J O'Brien; O Buckley; O Doody; E Ward; T Persaud; W Torreggiani
Journal:  J Med Imaging Radiat Oncol       Date:  2008-06       Impact factor: 1.735

Review 3.  Turner's syndrome in adulthood.

Authors:  M Elsheikh; D B Dunger; G S Conway; J A H Wass
Journal:  Endocr Rev       Date:  2002-02       Impact factor: 19.871

4.  Renal anomalies in Turner's syndrome. Types and suggested embryogenesis.

Authors:  F Matthies; W D Macdiarmid; M L Rallison; F H Tyler
Journal:  Clin Pediatr (Phila)       Date:  1971-10       Impact factor: 1.168

5.  The HNF-1 target collectrin controls insulin exocytosis by SNARE complex formation.

Authors:  Kenji Fukui; Qin Yang; Yang Cao; Noriko Takahashi; Hiroyasu Hatakeyama; Haiyan Wang; Jun Wada; Yanling Zhang; Lorella Marselli; Takao Nammo; Kazue Yoneda; Mineki Onishi; Shigeki Higashiyama; Yuji Matsuzawa; Frank J Gonzalez; Gordon C Weir; Haruo Kasai; Iichiro Shimomura; Jun-ichiro Miyagawa; Claes B Wollheim; Kazuya Yamagata
Journal:  Cell Metab       Date:  2005-12       Impact factor: 27.287

Review 6.  Roles of HNF-1beta in kidney development and congenital cystic diseases.

Authors:  Peter Igarashi; Xinli Shao; Brian T McNally; Thomas Hiesberger
Journal:  Kidney Int       Date:  2005-11       Impact factor: 10.612

7.  Essential role for collectrin in renal amino acid transport.

Authors:  Ursula Danilczyk; Renu Sarao; Christine Remy; Chahira Benabbas; Gerti Stange; Andreas Richter; Sudha Arya; J Andrew Pospisilik; Dustin Singer; Simone M R Camargo; Victoria Makrides; Tamara Ramadan; Francois Verrey; Carsten A Wagner; Josef M Penninger
Journal:  Nature       Date:  2006-12-13       Impact factor: 49.962

8.  Horseshoe kidney malformation in Turner syndrome is not associated with HNF-1beta gene mutations.

Authors:  Elena D'Amato; Giuseppe d'Annunzio; Valeria Calcaterra; Vera Morsellino; Daniela Larizza; Renata Lorini
Journal:  Pediatr Nephrol       Date:  2007-10-06       Impact factor: 3.714

9.  Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.

Authors:  Christine Bellanné-Chantelot; Dominique Chauveau; Jean-François Gautier; Danièle Dubois-Laforgue; Séverine Clauin; Sandrine Beaufils; Jean-Marie Wilhelm; Christian Boitard; Laure-Hélène Noël; Gilberto Velho; José Timsit
Journal:  Ann Intern Med       Date:  2004-04-06       Impact factor: 25.391

Review 10.  Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features.

Authors:  T Ogata; N Matsuo
Journal:  Hum Genet       Date:  1995-06       Impact factor: 4.132
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  4 in total

1.  Lack of TMEM27 expression is associated with postoperative progression of clinically localized conventional renal cell carcinoma.

Authors:  Andras Javorhazy; Nelli Farkas; Tamas Beothe; Csaba Pusztai; Arpad Szanto; Gyula Kovacs
Journal:  J Cancer Res Clin Oncol       Date:  2016-07-14       Impact factor: 4.553

Review 2.  Hypertension in Children and Adolescents with Turner Syndrome (TS), Neurofibromatosis 1 (NF1), and Williams Syndrome (WS).

Authors:  Ramya Sivasubramanian; Kevin E Meyers
Journal:  Curr Hypertens Rep       Date:  2021-03-29       Impact factor: 5.369

Review 3.  Heteromeric Solute Carriers: Function, Structure, Pathology and Pharmacology.

Authors:  Stephen J Fairweather; Nishank Shah; Stefan Brӧer
Journal:  Adv Exp Med Biol       Date:  2021       Impact factor: 2.622

4.  Assessment of the key regulatory genes and their Interologs for Turner Syndrome employing network approach.

Authors:  Anam Farooqui; Safia Tazyeen; Mohd Murshad Ahmed; Aftab Alam; Shahnawaz Ali; Md Zubbair Malik; Sher Ali; Romana Ishrat
Journal:  Sci Rep       Date:  2018-07-04       Impact factor: 4.379
  4 in total

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