| Clinical Characteristics, Molecular Features, and Long-Term Follow-Up of 15 Patients with Neonatal Diabetes: A Single-Centre Experience. | Clinical Characteristics, Molecular Features, and Long-Term Follow-Up of 15 Patients with Neonatal Diabetes: A Single-Centre Experience.
Abali ZY, De Franco E, Karakilic Ozturan E, Poyrazoglu S, Bundak R, Bas F, Flanagan SE, Darendeliler F., Free PMC Article | 11/13/2021 |
| Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To PTF1A Enhancer Mutations. | Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To PTF1A Enhancer Mutations.
Demirbilek H, Cayir A, Flanagan SE, Yıldırım R, Kor Y, Gurbuz F, Haliloğlu B, Yıldız M, Baran RT, Akbas ED, Demiral M, Ünal E, Arslan G, Vuralli D, Buyukyilmaz G, Al-Khawaga S, Saeed A, Al Maadheed M, Khalifa A, Onal H, Yuksel B, Ozbek MN, Bereket A, Hattersley AT, Hussain K, De Franco E., Free PMC Article | 03/6/2021 |
| non-neural progenitor transcription factor Ptf1a alone is sufficient to directly reprogram mouse and human fibroblasts into self-renewable induced neural stem cells capable of differentiating into functional neurons, astrocytes and oligodendrocytes, and improving cognitive dysfunction of Alzheimer's disease mouse models when transplanted | Direct reprogramming of fibroblasts into neural stem cells by single non-neural progenitor transcription factor Ptf1a.
Xiao D, Liu X, Zhang M, Zou M, Deng Q, Sun D, Bian X, Cai Y, Guo Y, Liu S, Li S, Shiang E, Zhong H, Cheng L, Xu H, Jin K, Xiang M., Free PMC Article | 12/29/2018 |
| Study describes the wide range of gene control by PTF1A that maintains the specific characteristics of pancreatic acinar cell identity and differentiation. PTF1A controls the pancreatic acinar transcription program by direct action at a thousand genes and in collaboration with other less cell type-restricted factors to ensure acinar cell homeostasis and to suppress other cell-type-specific programs. | Transcriptional Maintenance of Pancreatic Acinar Identity, Differentiation, and Homeostasis by PTF1A.
Hoang CQ, Hale MA, Azevedo-Pouly AC, Elsässer HP, Deering TG, Willet SG, Pan FC, Magnuson MA, Wright CV, Swift GH, MacDonald RJ., Free PMC Article | 06/24/2017 |
| Data show isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation | Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation.
Houghton JA, Swift GH, Shaw-Smith C, Flanagan SE, de Franco E, Caswell R, Hussain K, Mohamed S, Abdulrasoul M, Hattersley AT, MacDonald RJ, Ellard S., Free PMC Article | 06/10/2017 |
| The results of this study suggested Ptf1a-dependent cell-fate misspecification as a novel mechanism of human brainstem pathology. | Loss of Ptf1a Leads to a Widespread Cell-Fate Misspecification in the Brainstem, Affecting the Development of Somatosensory and Viscerosensory Nuclei.
Iskusnykh IY, Steshina EY, Chizhikov VV., Free PMC Article | 08/20/2016 |
| PTF1A enhancer mutations have been shown to cause neonatal diabetes associated with pancreatic agenesis | Variable Phenotype of Diabetes Mellitus in Siblings with a Homozygous PTF1A Enhancer Mutation.
Gonc EN, Ozon A, Alikasifoglu A, Haliloğlu M, Ellard S, Shaw-Smith C, Kandemir N. | 07/2/2016 |
| Loss of Ptf1a alone is sufficient to induce acinar-to-ductal metaplasia, potentiate inflammation, and induce a KRAS-permissive, pancreatic ductal adenocarcinoma-like gene expression profile. | The acinar differentiation determinant PTF1A inhibits initiation of pancreatic ductal adenocarcinoma.
Krah NM, De La O JP, Swift GH, Hoang CQ, Willet SG, Chen Pan F, Cash GM, Bronner MP, Wright CV, MacDonald RJ, Murtaugh LC., Free PMC Article | 04/23/2016 |
| The results of the present study do not support the hypothesis that high penetrant mutations in these regions of PTF1A are involved in the development of human VATER/VACTERL association or NTDs | Mutations in PTF1A are not a common cause for human VATER/VACTERL association or neural tube defects mirroring Danforth's short tail mouse.
Gurung N, Grosse G, Draaken M, Hilger AC, Nauman N, Müller A, Gembruch U, Merz WM, Reutter H, Ludwig M. | 01/2/2016 |
| ata indicate that E3 ubiquitin ligase thyroid hormone receptor-interacting protein 12 (TRIP12) promotes proteasomal degradation of pancreas transcription factor 1a (PTF1a)and regulates PTF1a activities. | The E3 ubiquitin ligase thyroid hormone receptor-interacting protein 12 targets pancreas transcription factor 1a for proteasomal degradation.
Hanoun N, Fritsch S, Gayet O, Gigoux V, Cordelier P, Dusetti N, Torrisani J, Dufresne M., Free PMC Article | 04/25/2015 |
| Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis. | Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.
Weedon MN, Cebola I, Patch AM, Flanagan SE, De Franco E, Caswell R, Rodríguez-Seguí SA, Shaw-Smith C, Cho CH, Allen HL, Houghton JA, Roth CL, Chen R, Hussain K, Marsh P, Vallier L, Murray A, International Pancreatic Agenesis Consortium, Ellard S, Ferrer J, Hattersley AT., Free PMC Article | 03/8/2014 |
| ICAT is a novel Ptf1a interactor that regulates pancreatic acinar differentiation and displays altered expression. | ICAT is a novel Ptf1a interactor that regulates pancreatic acinar differentiation and displays altered expression in tumours.
Campos ML, Sánchez-Arévalo Lobo VJ, Rodolosse A, Gottardi CJ, Mafficini A, Beghelli S, Scardoni M, Bassi C, Scarpa A, Real FX. | 06/1/2013 |
| ptf1a functions as a "pancreatic determiner". | Genetic lineage tracing, a powerful tool to investigate the embryonic organogenesis and adult organ maintenance of the pancreas.
Kawaguchi Y, Takaori K, Uemoto S. | 06/4/2011 |
| Here we report a new case of cerebellar agenesis and neonatal diabetes mellitus whose parents are PTF1A mutation carriers. | A Turkish newborn infant with cerebellar agenesis/neonatal diabetes mellitus and PTF1A mutation.
Tutak E, Satar M, Yapicioğlu H, Altintaş A, Narli N, Hergüner O, Bayram Y. | 01/21/2010 |
| Two separable genomic regions code for initiation and positive feedback of Ptf1a transgene expression in the developing nervous system. | Multiple transcriptional mechanisms control Ptf1a levels during neural development including autoregulation by the PTF1-J complex.
Meredith DM, Masui T, Swift GH, MacDonald RJ, Johnson JE., Free PMC Article | 01/21/2010 |
| A critical and selective role of p/CAF in PTF1-dependent gene activation during acinar differentiation. | p/CAF modulates the activity of the transcription factor p48/Ptf1a involved in pancreatic acinar differentiation.
Rodolosse A, Campos ML, Rooman I, Lichtenstein M, Real FX. | 01/21/2010 |
| Controls the fate, survival, differentiation, and migration of climbing fiber neurons during their development in the transgenic murine inferior olivary nucleus. | Origin of climbing fiber neurons and their developmental dependence on Ptf1a.
Yamada M, Terao M, Terashima T, Fujiyama T, Kawaguchi Y, Nabeshima Y, Hoshino M., Free PMC Article | 01/21/2010 |
| P48 interacts with the RBP-L and RBP-J subunits primarily through two short conserved tryptophan-containing motifs, similar to the motif of the Notch intracellular domain (NotchIC) that interacts with RBP-J. | 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.
Beres TM, Masui T, Swift GH, Shi L, Henke RM, MacDonald RJ., Free PMC Article | 01/21/2010 |