Literature DB >> 26108976

Tuberous sclerosis, polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation.

Jaime J Barea1,2, Eline van Meel3, Stuart Kornfeld3, Lynne M Bird1,2.   

Abstract

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Year:  2015        PMID： 26108976      PMCID： PMC4708255          DOI： 10.1002/ajmg.a.37213

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  9 in total

1.  Deletions that reveal recessive genes.

Authors:  David J Coman; R J McKinlay Gardner
Journal:  Eur J Hum Genet       Date:  2007-08-29       Impact factor: 4.246

2.  Monozygotic twins with chromosome 22q11 deletion and discordant phenotype.

Authors:  E Hatchwell
Journal:  J Med Genet       Date:  1996-03       Impact factor: 6.318

3.  Analysis of mucolipidosis II/III GNPTAB missense mutations identifies domains of UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase involved in catalytic function and lysosomal enzyme recognition.

Authors:  Yi Qian; Eline van Meel; Heather Flanagan-Steet; Alex Yox; Richard Steet; Stuart Kornfeld
Journal:  J Biol Chem       Date:  2014-12-11       Impact factor: 5.157

4.  Discovery of variants unmasked by hemizygous deletions.

Authors:  Ron Hochstenbach; Martin Poot; Isaac J Nijman; Ivo Renkens; Karen J Duran; Ruben Van't Slot; Ellen van Binsbergen; Bert van der Zwaag; Maartje J Vogel; Paulien A Terhal; Hans Kristian Ploos van Amstel; Wigard P Kloosterman; Edwin Cuppen
Journal:  Eur J Hum Genet       Date:  2012-01-18       Impact factor: 4.246

5.  Mislocalization of phosphotransferase as a cause of mucolipidosis III αβ.

Authors:  Eline van Meel; Yi Qian; Stuart A Kornfeld
Journal:  Proc Natl Acad Sci U S A       Date:  2014-02-18       Impact factor: 11.205

6.  Tuberous sclerosis and polycystic kidney disease in a 3-month-old infant.

Authors:  Martin W Laass; Miriam Spiegel; Anna Jauch; Gabriele Hahn; Edgar Rupprecht; Christian Vogelberg; Oliver Bartsch; Angela Huebner
Journal:  Pediatr Nephrol       Date:  2004-03-09       Impact factor: 3.714

7.  Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II.

Authors:  Steven G Waguespack; Daniel L Koller; Kenneth E White; Tonya Fishburn; Gwenaelle Carn; Kenneth A Buckwalter; Michelle Johnson; Maureen Kocisko; Wayne E Evans; Tatiana Foroud; Michael J Econs
Journal:  J Bone Miner Res       Date:  2003-08       Impact factor: 6.741

8.  Large deletion causing the TSC2-PKD1 contiguous gene syndrome without infantile polycystic disease.

Authors:  Y M Smulders; B H J Eussen; S Verhoef; C H Wouters
Journal:  J Med Genet       Date:  2003-02       Impact factor: 6.318

9.  Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment.

Authors:  A Del Fattore; B Peruzzi; N Rucci; I Recchia; A Cappariello; M Longo; D Fortunati; P Ballanti; M Iacobini; M Luciani; R Devito; R Pinto; M Caniglia; E Lanino; C Messina; S Cesaro; C Letizia; G Bianchini; H Fryssira; P Grabowski; N Shaw; N Bishop; D Hughes; R P Kapur; H K Datta; A Taranta; R Fornari; S Migliaccio; A Teti
Journal:  J Med Genet       Date:  2005-08-23       Impact factor: 6.318
  9 in total
  2 in total

1.  Mucolipidosis III GNPTG Missense Mutations Cause Misfolding of the γ Subunit of GlcNAc-1-Phosphotransferase.

Authors:  Eline van Meel; Stuart Kornfeld
Journal:  Hum Mutat       Date:  2016-04-22       Impact factor: 4.878

2.  Lysosomal Proteome and Secretome Analysis Identifies Missorted Enzymes and Their Nondegraded Substrates in Mucolipidosis III Mouse Cells.

Authors:  Giorgia Di Lorenzo; Renata Voltolini Velho; Dominic Winter; Melanie Thelen; Shiva Ahmadi; Michaela Schweizer; Raffaella De Pace; Kerstin Cornils; Timur Alexander Yorgan; Saskia Grüb; Irm Hermans-Borgmeyer; Thorsten Schinke; Sven Müller-Loennies; Thomas Braulke; Sandra Pohl
Journal:  Mol Cell Proteomics       Date:  2018-05-17       Impact factor: 5.911
  2 in total

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