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

被引:35
作者
Al-Shammari, M. [2 ,3 ]
Al-Husain, M. [2 ,3 ]
Al-Kharfy, T. [2 ,3 ]
Alkuraya, F. S. [1 ,2 ,3 ,4 ]
机构
[1] King Faisal Specialist Hosp & Res Ctr, Dept Genet, Dev Genet Unit, Riyadh 11211, Saudi Arabia
[2] King Saud Univ, Coll Med, Riyadh 11461, Saudi Arabia
[3] King Khalid Univ, Dept Pediat, Riyadh, Saudi Arabia
[4] Alfaisal Univ, Coll Med, Dept Anat & Cell Biol, Riyadh, Saudi Arabia
关键词
DIABETES-MELLITUS; AMACRINE CELLS; PROGENITORS; RETINA; FATES; ENDOCRINE; EXOCRINE; COMPLEX; GENE;
D O I
10.1111/j.1399-0004.2010.01613.x
中图分类号
Q3 [遗传学];
学科分类号
071007 [遗传学];
摘要
引用
收藏
页码:196 / 198
页数:3
相关论文
共 15 条
[1]
PTF1 is an organ-specific and notch-independent basic helix-loop-helix complex containing the mammalian suppressor of hairless (RBP-J) or its paralogue, RBP-L [J].
Beres, TM ;
Masui, T ;
Swift, GH ;
Shi, L ;
Henke, RM ;
MacDonald, RJ .
MOLECULAR AND CELLULAR BIOLOGY, 2006, 26 (01) :117-130
[2]
Graded levels of Ptf1a differentially regulate endocrine and exocrine fates in the developing pancreas [J].
Dong, P. Duc Si ;
Provost, Elayne ;
Leach, Steven D. ;
Stainier, Didier Y. R. .
GENES & DEVELOPMENT, 2008, 22 (11) :1445-1450
[3]
Ptf1a triggers GABAergic neuronal cell fates in the retina [J].
Dullin, Jean-Philippe ;
Locker, Morgane ;
Robach, Melodie ;
Henningfeld, Kristine A. ;
Parain, Karine ;
Afelik, Solomon ;
Pieler, Tomas ;
Perron, Muriel .
BMC DEVELOPMENTAL BIOLOGY, 2007, 7
[4]
Reduction of Ptf1a gene dosage causes pancreatic hypoplasia and diabetes in mice [J].
Fukuda, Akihisa ;
Kawaguchi, Yoshiya ;
Furuyama, Kenichiro ;
Kodama, Sota ;
Horiguchi, Masashi ;
Kuhara, Takeshi ;
Kawaguchi, Michiya ;
Terao, Mami ;
Doi, Ryuichiro ;
Wright, Christopher V. E. ;
Hoshino, Mikio ;
Chiba, Tsutomu ;
Uemoto, Shinji .
DIABETES, 2008, 57 (09) :2421-2431
[5]
A nonclassical bHLH-Rbpj transcription factor complex is required for specification of GABAergic neurons independent of Notch signaling [J].
Hori, Kei ;
Cholewa-Waclaw, Justyna ;
Nakada, Yuji ;
Glasgow, Stacey M. ;
Masui, Toshihiko ;
Henke, R. Michael ;
Wildner, Hendrik ;
Martarelli, Benedetta ;
Beres, Thomas M. ;
Epstein, Jonathan A. ;
Magnuson, Mark A. ;
MacDonald, Raymond J. ;
Birchmeier, Carmen ;
Johnson, Jane E. .
GENES & DEVELOPMENT, 2008, 22 (02) :166-178
[6]
Ptf1a, a bHLH transcriptional gene, defines GABAergic neuronal fates in cerebellum [J].
Hoshino, M ;
Nakamura, S ;
Mori, K ;
Kawauchi, T ;
Terao, M ;
Nishimura, YV ;
Fukuda, A ;
Fuse, T ;
Matsuo, N ;
Sone, M ;
Watanabe, M ;
Bito, H ;
Terashima, T ;
Wright, CVE ;
Kawaguchi, Y ;
Nakao, K ;
Nabeshima, YI .
NEURON, 2005, 47 (02) :201-213
[7]
Hoveyda N, 1999, J MED GENET, V36, P700
[8]
Ptf1a is expressed transiently in all types of amacrine cells in the embryonic zebrafish retina [J].
Jusuf, Patricia R. ;
Harris, William A. .
NEURAL DEVELOPMENT, 2009, 4
[9]
The role of the transcriptional regulator Ptf1a in converting intestinal to pancreatic progenitors [J].
Kawaguchi, Y ;
Cooper, B ;
Gannon, M ;
Ray, M ;
MacDonald, RJ ;
Wright, CVE .
NATURE GENETICS, 2002, 32 (01) :128-134
[10]
The bHLH protein PTF1-p48 is essential for the formation of the exocrine and the correct spatial organization of the endocrine pancreas [J].
Krapp, A ;
Knofler, M ;
Ledermann, B ;
Bürki, K ;
Berney, C ;
Zoerkler, N ;
Hagenbüchle, O ;
Wellauer, PK .
GENES & DEVELOPMENT, 1998, 12 (23) :3752-3763