Literature DB >> 21749365

A novel PTF1A mutation in a patient with severe pancreatic and cerebellar involvement.

M Al-Shammari, M Al-Husain, T Al-Kharfy, Fowzan S Alkuraya.   

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Year:  2011        PMID： 21749365     DOI： 10.1111/j.1399-0004.2010.01613.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  17 in total

1.  The E3 ubiquitin ligase thyroid hormone receptor-interacting protein 12 targets pancreas transcription factor 1a for proteasomal degradation.

Authors:  Naïma Hanoun; Samuel Fritsch; Odile Gayet; Véronique Gigoux; Pierre Cordelier; Nelson Dusetti; Jérôme Torrisani; Marlène Dufresne
Journal:  J Biol Chem       Date:  2014-10-29       Impact factor: 5.157

Review 2.  Mutations in the noncoding genome.

Authors:  Cheryl A Scacheri; Peter C Scacheri
Journal:  Curr Opin Pediatr       Date:  2015-12       Impact factor: 2.856

3.  Transformation of the cerebellum into more ventral brainstem fates causes cerebellar agenesis in the absence of Ptf1a function.

Authors:  Kathleen J Millen; Ekaterina Y Steshina; Igor Y Iskusnykh; Victor V Chizhikov
Journal:  Proc Natl Acad Sci U S A       Date:  2014-04-14       Impact factor: 11.205

4.  Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations.

Authors:  Kimberly A Aldinger; Nancy J Mendelsohn; Brian Hy Chung; Wenjuan Zhang; Daniel H Cohn; Bridget Fernandez; Fowzan S Alkuraya; William B Dobyns; Cynthia J Curry
Journal:  J Med Genet       Date:  2015-12-15       Impact factor: 6.318

Review 5.  Interactions Between Purkinje Cells and Granule Cells Coordinate the Development of Functional Cerebellar Circuits.

Authors:  Meike E van der Heijden; Roy V Sillitoe
Journal:  Neuroscience       Date:  2020-06-14       Impact factor: 3.590

6.  Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man.

Authors:  Sarah E Flanagan; Elisa De Franco; Hana Lango Allen; Michele Zerah; Majedah M Abdul-Rasoul; Julie A Edge; Helen Stewart; Elham Alamiri; Khalid Hussain; Sam Wallis; Liat de Vries; Oscar Rubio-Cabezas; Jayne A L Houghton; Emma L Edghill; Ann-Marie Patch; Sian Ellard; Andrew T Hattersley
Journal:  Cell Metab       Date:  2014-01-07       Impact factor: 27.287

Review 7.  Many faces of monogenic diabetes.

Authors:  Valerie M Schwitzgebel
Journal:  J Diabetes Investig       Date:  2014-02-24       Impact factor: 4.232

8.  A novel GATA6 mutation in a child with congenital heart malformation and neonatal diabetes.

Authors:  Serge Eifes; Kishan K Chudasama; Janne Molnes; Kerstin Wagner; Tuyen Hoang; Ulrike Schierloh; Danielle Rocour-Brumioul; Stefan Johansson; Pål R Njølstad; Carine de Beaufort
Journal:  Clin Case Rep       Date:  2013-11-21

9.  Ectopic cerebellar cell migration causes maldevelopment of Purkinje cells and abnormal motor behaviour in Cxcr4 null mice.

Authors:  Guo-Jen Huang; Andrew Edwards; Cheng-Yu Tsai; Yi-Shin Lee; Lei Peng; Takumi Era; Yoshio Hirabayashi; Ching-Yen Tsai; Shin-Ichi Nishikawa; Yoichiro Iwakura; Shu-Jen Chen; Jonathan Flint
Journal:  PLoS One       Date:  2014-02-07       Impact factor: 3.240

10.  Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.

Authors:  Michael N Weedon; Ines Cebola; Ann-Marie Patch; Sian Ellard; Jorge Ferrer; Andrew T Hattersley; Sarah E Flanagan; Elisa De Franco; Richard Caswell; Santiago A Rodríguez-Seguí; Charles Shaw-Smith; Candy H-H Cho; Hana Lango Allen; Jayne Al Houghton; Christian L Roth; Rongrong Chen; Khalid Hussain; Phil Marsh; Ludovic Vallier; Anna Murray
Journal:  Nat Genet       Date:  2013-11-10       Impact factor: 38.330
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