NEUROD1

Summary

Gene Symbol: NEUROD1
Description: neuronal differentiation 1
Alias: BETA2, BHF-1, MODY6, NEUROD, bHLHa3, neurogenic differentiation factor 1, basic helix-loop-helix transcription factor, beta-cell E-box transactivator 2, class A basic helix-loop-helix protein 3, neurogenic helix-loop-helix protein NEUROD
Species: human
Products:     NEUROD1

Top Publications

  1. Naya F, Huang H, Qiu Y, Mutoh H, DeMayo F, Leiter A, et al. Diabetes, defective pancreatic morphogenesis, and abnormal enteroendocrine differentiation in BETA2/neuroD-deficient mice. Genes Dev. 1997;11:2323-34 pubmed
    ..The cell-type restricted basic helix-loop-helix (bHLH) gene, BETA2/NeuroD, expressed in pancreatic endocrine cells, the intestine, and the brain, activates insulin gene transcription and ..
  2. Malecki M, Jhala U, Antonellis A, Fields L, Doria A, Orban T, et al. Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus. Nat Genet. 1999;23:323-8 pubmed
    The helix-loop-helix (HLH) protein NEUROD1 (also known as BETA2) functions as a regulatory switch for endocrine pancreatic development...
  3. Chae J, Stein G, Lee J. NeuroD: the predicted and the surprising. Mol Cells. 2004;18:271-88 pubmed
    b>NeuroD (otherwise known as BETA2) is a basic helix-loop-helix (bHLH) transcription factor that is capable of converting embryonic epidermal cells into fully differentiated neurons in Xenopus embryos...
  4. Aramata S, Han S, Yasuda K, Kataoka K. Synergistic activation of the insulin gene promoter by the beta-cell enriched transcription factors MafA, Beta2, and Pdx1. Biochim Biophys Acta. 2005;1730:41-6 pubmed
    ..Pdx1, MafA, and Beta2 have been identified as beta-cell enriched transcription factors that bind to these elements...
  5. Neptune E, Podowski M, Calvi C, Cho J, Garcia J, Tuder R, et al. Targeted disruption of NeuroD, a proneural basic helix-loop-helix factor, impairs distal lung formation and neuroendocrine morphology in the neonatal lung. J Biol Chem. 2008;283:21160-9 pubmed publisher
    ..b>NeuroD, a basic helix-loop-helix transcription factor, fulfilled the expression criteria for a candidate mediator of ..
  6. Huang P, Kishida S, Cao D, Murakami Tonami Y, Mu P, Nakaguro M, et al. The neuronal differentiation factor NeuroD1 downregulates the neuronal repellent factor Slit2 expression and promotes cell motility and tumor formation of neuroblastoma. Cancer Res. 2011;71:2938-48 pubmed publisher
    The basic helix-loop-helix transcription factor NeuroD1 has been implicated in the neurogenesis and early differentiation of pancreatic endocrine cells. However, its function in relation to cancer has been poorly examined...
  7. Osborne J, Larsen J, Shields M, Gonzales J, Shames D, Sato M, et al. NeuroD1 regulates survival and migration of neuroendocrine lung carcinomas via signaling molecules TrkB and NCAM. Proc Natl Acad Sci U S A. 2013;110:6524-9 pubmed publisher
    ..We demonstrate that neurogenic differentiation 1 (NeuroD1) is a regulatory hub securing cross talk among survival and migratory-inducing signaling pathways in ..
  8. Fajans S, Bell G, Polonsky K. Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N Engl J Med. 2001;345:971-80 pubmed
  9. Liu L, Furuta H, Minami A, Zheng T, Jia W, Nanjo K, et al. A novel mutation, Ser159Pro in the NeuroD1/BETA2 gene contributes to the development of diabetes in a Chinese potential MODY family. Mol Cell Biochem. 2007;303:115-20 pubmed
    During examining the prevalence of mutations in NeuroD1/BETA2 gene in Chinese early-onset type 2 diabetic probands, a novel missense mutation, Ser159Pro in a potential MODY family was identified...

More Information

Publications135 found, 100 shown here

  1. Gonsorcíkova L, Pruhova S, Cinek O, Ek J, Pelikanova T, Jørgensen T, et al. Autosomal inheritance of diabetes in two families characterized by obesity and a novel H241Q mutation in NEUROD1. Pediatr Diabetes. 2008;9:367-72 pubmed publisher
    The aim of the study was to search for mutations in the NEUROD1 and IPF-1 genes in patients with clinical characteristics of maturity-onset diabetes of the young (MODY) but with no mutations in the HNF-4A (MODY1), GCK (MODY2) and TCF1 (..
  2. Darmawan G, Hamijoyo L, Oehadian A, Bandiara R, Amalia L. Cerebral Venous Sinus Thrombosis in Systemic Lupus Erythematosus. Acta Med Indones. 2018;50:343-345 pubmed
    ..Anticardiolipin antibodies of IgG and IgM and anti-beta2 glycoprotein antibodies of IgM and IgG tests were non reactive...
  3. Paolino G, Panetta C, Didona D, Donati M, Donati P. Atrophic and Annular Scarring Alopecia of the Scalp as a Finding in Underlying Systemic Sarcoidosis. Acta Dermatovenerol Croat. 2017;25:298-299 pubmed
    ..hepatitis B and C viral serology, anti-nuclear antibodies, antibodies to extractable nuclear antigen, cardiolipin, beta2 glycoprotein immunoglobulin G antibodies, and lymphoid subsets were all in normal ranges, whereas the angiotensin ..
  4. Xu D, Wang Y, Chen Z, Li S, Cheng Y, Zhang L, et al. Prevalence and risk factors for asthma among children aged 0-14 years in Hangzhou: a cross-sectional survey. Respir Res. 2016;17:122 pubmed
    ..05). Inhaled corticosteroid (ICS)/ICS?+?long-acting beta2 agonists (LABA) was applied to 46.2 % of patients. Traditional Chinese medicine (TCM) was used in 44...
  5. Hollborn M, Ulbricht E, Rillich K, Dukic Stefanovic S, Wurm A, Wagner L, et al. The human Müller cell line MIO-M1 expresses opsins. Mol Vis. 2011;17:2738-50 pubmed
    ..heavy neurofilament polypeptide [NEFH], microtubule-associated protein 2 [MAP2], neurogenic differentiation 1 [NEUROD1], neuronal nuclei [NEUN]), and neural progenitor markers (Nestin [NES], paired-type homeobox transcription factor ..
  6. Mannino G, Sesti G. Individualized therapy for type 2 diabetes: clinical implications of pharmacogenetic data. Mol Diagn Ther. 2012;16:285-302 pubmed publisher
    ..voltage-gated channel, KQT-like subfamily, member 1 [KCNQ1], paired box 4 [PAX4] and neuronal differentiation 1 [NEUROD1] transcription factors, ataxia telangiectasia mutated [ATM], and serine racemase [SRR]) that have recently been ..
  7. Molica S, Vitelli G, Mirabelli R, Digiesu G, Giannarelli D, Cuneo A, et al. Serum levels of syndecan-1 in B-cell chronic lymphocytic leukemia: correlation with the extent of angiogenesis and disease-progression risk in early disease. Leuk Lymphoma. 2006;47:1034-40 pubmed
    ..02; Mann-Whitney test). No correlation was found with Binet clinical stages (P = 0.796), beta2-microglobulin (P = 0.923), hemoglobin level (P = 0.605), platelet count (P = 0...
  8. Fu Z, Gilbert E, Liu D. Regulation of insulin synthesis and secretion and pancreatic Beta-cell dysfunction in diabetes. Curr Diabetes Rev. 2013;9:25-53 pubmed
    ..box gene 6 (PAX6), pancreatic and duodenal homeobox- 1(PDX-1), MafA, and β-2/Neurogenic differentiation 1 (NeuroD1) regulate insulin transcription, while the stability of preproinsulin mRNA and its untranslated regions control ..
  9. Cheng Y, Tong M, Edge A. Destabilization of Atoh1 by E3 Ubiquitin Ligase Huwe1 and Casein Kinase 1 Is Essential for Normal Sensory Hair Cell Development. J Biol Chem. 2016;291:21096-21109 pubmed
    ..These data indicate that the regulation of Atoh1 by the ubiquitin proteasome pathway is necessary for hair cell fate determination and survival. ..
  10. Luo L, Zhang H, Nian S, Lv C, Ni B, Wang D, et al. Up-regulation of Transcription Factor 3 Is Correlated With Poor Prognosis in Cervical Carcinoma. Int J Gynecol Cancer. 2017;27:1422-1430 pubmed publisher
    ..This is the first time that it has been reported that TCF3 can act as a tumor promoter in cervical cancer and thus might be of great significance in the prognosis of CSCC. ..
  11. Hennis P, O Doherty A, Levett D, Grocott M, Montgomery H. Genetic factors associated with exercise performance in atmospheric hypoxia. Sports Med. 2015;45:745-61 pubmed publisher
    ..The adenosine monophosphate deaminase (AMPD1) C34T (rs17602729), beta2-adrenergic receptor (ADRB2) Gly16Arg single nucleotide polymorphism (SNP) (rs1042713), and androgen receptor CAG ..
  12. Hwang S, Uhm T, Lee S, Kong S, Jung K, Binas B, et al. Olig2 is expressed late in human eosinophil development and controls Siglec-8 expression. J Leukoc Biol. 2016;100:711-723 pubmed
    ..Hence, at least one important aspect of eosinophil differentiation is regulated by oligodendrocyte transcription factor 2, a transcription factor that has not previously been reported, to our knowledge, in normal granulocytes. ..
  13. Moroni G, Doria A, Giglio E, Imbasciati E, Tani C, Zen M, et al. Maternal outcome in pregnant women with lupus nephritis. A prospective multicenter study. J Autoimmun. 2016;74:194-200 pubmed publisher
    ..C4 complement fractions, anti-DNA antibodies, anti-C1q antibodies, anticardiolipin IgG and IgM antibodies, anti-beta2 IgG and IgM antibodies were tested at screening visit, at first, second, third trimester of pregnancy, and one ..
  14. Schmitz G, Langmann T. Transcriptional regulatory networks in lipid metabolism control ABCA1 expression. Biochim Biophys Acta. 2005;1735:1-19 pubmed
    ..including ours suggests that vesicular transport processes involving different interactive proteins like beta2-syntrophin, alpha1-syntrophin, Lin7, and cdc42 are critically involved in cellular lipid homeostasis controlled by ..
  15. Bhattacharya S, Oksbjerg N, Young J, Jeppesen P. Caffeic acid, naringenin and quercetin enhance glucose-stimulated insulin secretion and glucose sensitivity in INS-1E cells. Diabetes Obes Metab. 2014;16:602-12 pubmed publisher
    ..change the expression profile of genes [Glut2 (glucose transporter 2), Gck (glucokinase), Ins1 (insulin 1), Ins2, Beta2 (neurogenic differentiation protein 1), Pdx1 (pancreatic and duodenal homeobox protein 1), Akt1 (RAC-α serine/..
  16. Rodríguez Fernandez J, Gomez M, Luque A, Hogg N, Sanchez Madrid F, Cabanas C. The interaction of activated integrin lymphocyte function-associated antigen 1 with ligand intercellular adhesion molecule 1 induces activation and redistribution of focal adhesion kinase and proline-rich tyrosine kinase 2 in T lymphocytes. Mol Biol Cell. 1999;10:1891-907 pubmed
    ..Here we report that induction of activation of the beta2-integrin lymphocyte function-associated antigen 1 (LFA-1) in T lymphocytes with divalent cations, phorbol esters, ..
  17. Seltzer J, Ashton C, Scotton T, Pangal D, Carmichael J, Zada G. Gene and protein expression in pituitary corticotroph adenomas: a systematic review of the literature. Neurosurg Focus. 2015;38:E17 pubmed publisher
    ..found to be overexpressed in ACTH-PAs relative to the normal pituitary gland included hPTTG1/securin, NEUROD1/NeuroD1 (Beta2), HSD11B2/11β-hydroxysteroid dehydrogenase 2, AKT/Akt, protein kinase B, and CCND1/cyclin D1...
  18. Patanè S, Marte F, La Rosa F, Rocca R. Atrial fibrillation associated with chocolate intake abuse and chronic salbutamol inhalation abuse. Int J Cardiol. 2010;145:e74-e76 pubmed publisher
    ..cardiovascular autonomic regulation to a new level characterized by greater sympathetic responsiveness and slight beta2-receptor tolerance...
  19. Becarevic M, Mirković D, Ignjatovic S. Double positivity of the IgG isotype of both anticardiolipin and anti-?2gpI antibodies is associated with the highest number of vascular impairment parameters in patients with primary antiphospholipid syndrome: preliminary data. Clin Rheumatol. 2016;35:2947-2954 pubmed
    ..The presence of the IgG isotype of both aCL + anti-beta2 glycoprotein I (a?2gpI) Abs was associated with the highest number of analyzed parameters (i.e...
  20. Sharma A, Rani R. Do we really need to differentiate mesenchymal stem cells into insulin-producing cells for attenuation of the autoimmune responses in type 1 diabetes: immunoprophylactic effects of precursors to insulin-producing cells. Stem Cell Res Ther. 2017;8:167 pubmed publisher
    ..MSCs grown in high-glucose media for 11 to 13 passages expressed genes of the pancreatic lineage such as PDX1, beta2, neurogenin, PAX4, Insulin, and glucagon...
  21. Bray A, Cevallos R, Gazarian K, Lamas M. Human dental pulp stem cells respond to cues from the rat retina and differentiate to express the retinal neuronal marker rhodopsin. Neuroscience. 2014;280:142-55 pubmed publisher
    ..early neuronal and retinal markers (polysialic acid-neural cell adhesion molecule (PSA-NCAM); Pax6; Ascl1; NeuroD1) and the late photoreceptor marker rhodopsin, by immunofluorescence and reverse transcription polymerase chain ..
  22. Wilson L, Wong S, Yu N, Geras Raaka E, Raaka B, Gershengorn M. Insulin but not glucagon gene is silenced in human pancreas-derived mesenchymal stem cells. Stem Cells. 2009;27:2703-11 pubmed publisher
    ..1 (Pdx1), V-maf musculoaponeurotic fibrosarcoma oncogene homolog A (Mafa), and neurogenic differentiation 1 (Neurod1), would activate INS gene expression in long-term hIPC cultures...
  23. Kikuchi M, Kizaki K, Shigeno S, Toji N, Ishiguro Oonuma T, Koshi K, et al. Newly identified interferon tau-responsive Hes family BHLH transcription factor 4 and cytidine/uridine monophosphate kinase 2 genes in peripheral blood granulocytes during early pregnancy in cows. Domest Anim Endocrinol. 2019;68:64-72 pubmed publisher
    ..These genes may function as new ISGs in the context of implantation and may participate in the coordination of the feto-maternal interface in cows. ..
  24. Ni H, Soe Z, Moe S. Aclidinium bromide for stable chronic obstructive pulmonary disease. Cochrane Database Syst Rev. 2014;:CD010509 pubmed publisher
    ..Parallel-group RCTs of aclidinium bromide compared with placebo, long-acting beta2-agonists (LABA) or LAMA in adults with stable COPD...
  25. Yang L, Cao Z, Yu B, Chai C. An in vivo mouse model of primary dysmenorrhea. Exp Anim. 2015;64:295-303 pubmed publisher
    ..Western blot analyses were performed to determine the expressions of oxytocin receptor (OTR), beta2-adrenergic receptor (beta2-AR), and cyclooxygenase-2 (COX-2) in uterine, which are responsible for the uterine ..
  26. Magnadottir B, Hayes P, Hristova M, Bragason B, Nicholas A, Dodds A, et al. Post-translational protein deimination in cod (Gadus morhua L.) ontogeny novel roles in tissue remodelling and mucosal immune defences?. Dev Comp Immunol. 2018;87:157-170 pubmed publisher
    ..metabolic and immune related proteins such as galectin, mannan-binding lectin, toll-like receptor, kininogen, Beta2-microglobulin, aldehyde dehydrogenase, bloodthirsty and preproapolipoprotein A-I...
  27. Sheets T, Park K, Park C, Swift S, Powell A, Donovan D, et al. Targeted Mutation of NGN3 Gene Disrupts Pancreatic Endocrine Cell Development in Pigs. Sci Rep. 2018;8:3582 pubmed publisher
    ..as an in-frame biallelic knockout (Δ2/Δ2), which showed a loss of putative NGN3-downstream target genes: NEUROD1 and PAX4, as well as insulin, glucagon, somatostatin and pancreatic polypeptide-Y...
  28. Wang F, Zhu H, Kong W, Peng R, Liu Q, Yao Q. The Antirrhinum AmDEL gene enhances flavonoids accumulation and salt and drought tolerance in transgenic Arabidopsis. Planta. 2016;244:59-73 pubmed publisher
    ..The AmDEL gene has the potential to be used to increase the content of valuable flavonoids and improve tolerance to abiotic stresses in plants. ..
  29. Onishi K. Total management of chronic obstructive pulmonary disease (COPD) as an independent risk factor for cardiovascular disease. J Cardiol. 2017;70:128-134 pubmed publisher
    ..Inhaled long-acting bronchodilators including beta2-agonists and anticholinergics for COPD would not worsen HF...
  30. Gilbert G, Courtois A, Dubois M, Cussac L, Ducret T, Lory P, et al. T-type voltage gated calcium channels are involved in endothelium-dependent relaxation of mice pulmonary artery. Biochem Pharmacol. 2017;138:61-72 pubmed publisher
    ..TRPV4-, beta2 adrenergic- and nitric oxide donors (SNP)-mediated relaxation were not altered in Cav3...
  31. Hebel T, Eisinger K, Neumeier M, Rein Fischboeck L, Pohl R, Meier E, et al. Lipid abnormalities in alpha/beta2-syntrophin null mice are independent from ABCA1. Biochim Biophys Acta. 2015;1851:527-36 pubmed publisher
    ..Current data exclude a major function of these syntrophins in ABCA1 activity and insulin release but suggest a role in regulating glucose uptake, ERK and SR-BI levels, and sphingomyelin metabolism in obesity. ..
  32. Lougheed M, Lemiere C, Dell S, Ducharme F, FitzGerald J, Leigh R, et al. Canadian Thoracic Society Asthma Management Continuum--2010 Consensus Summary for children six years of age and over, and adults. Can Respir J. 2010;17:15-24 pubmed
    ..When asthma is not controlled with a low dose of ICS, the literature supports the addition of long-acting beta2-agonists in adults, while the preferred approach in children is to increase the dose of ICS...
  33. Guo F, Zhang L, Wei J, Ren L, Zhang J, Jing L, et al. Endosulfan inhibiting the meiosis process via depressing expressions of regulatory factors and causing cell cycle arrest in spermatogenic cells. Environ Sci Pollut Res Int. 2016;23:20506-20516 pubmed
  34. Acharya H, Dooley C, Thoreson W, Ahmad I. cDNA cloning and expression analysis of NeuroD mRNA in human retina. Biochem Biophys Res Commun. 1997;233:459-63 pubmed
    ..Here we report the identification and analysis of the expression of a neurogenic differentiation gene, NeuroD, in human retina...
  35. Bangia N, Lehner P, Hughes E, Surman M, Cresswell P. The N-terminal region of tapasin is required to stabilize the MHC class I loading complex. Eur J Immunol. 1999;29:1858-70 pubmed
    ..and TAP in the absence of tapasin, and between free heavy chains and TAP-tapasin complexes in the absence of beta2-microglobulin...
  36. Endo T, Fujii H, Sugiyama A, Nakano M, Nakajima N, Ikoma Y, et al. Overexpression of a citrus basic helix-loop-helix transcription factor (CubHLH1), which is homologous to Arabidopsis activation-tagged bri1 suppressor 1 interacting factor genes, modulates carotenoid metabolism in transgenic tomato. Plant Sci. 2016;243:35-48 pubmed publisher
    ..These results implied that CubHLH1 is considered to have a similar function to Arabidopsis AIFs and might be directly involved in carotenoid metabolism in mature citrus fruit. ..
  37. Laurie L, Kokubo H, Nakamura M, Saga Y, Funato N. The Transcription Factor Hand1 Is Involved In Runx2-Ihh-Regulated Endochondral Ossification. PLoS ONE. 2016;11:e0150263 pubmed publisher
    ..These results demonstrate that Hand1 in chondrocytes regulates endochondral ossification, at least in part through the Runx2-Ihh axis. ..
  38. Zhou Z, Wang B, Cheng X, Zhang X, Tang J, Tang W, et al. Roles of SHARP1 in thyroid cancer. Mol Med Rep. 2016;13:5365-71 pubmed publisher
  39. Bengoa Vergniory N, Gorroño Etxebarria I, López Sánchez I, Marra M, Di Chiaro P, Kypta R. Identification of Noncanonical Wnt Receptors Required for Wnt-3a-Induced Early Differentiation of Human Neural Stem Cells. Mol Neurobiol. 2017;54:6213-6224 pubmed publisher
    ..Silencing of ROR2 increased neuronal differentiation, as measured by expression of the genes DCX, NEUROD1, and NGN1, suggesting ROR2 signals normally prevent differentiation...
  40. Kobayashi T. Expression and Regulation of Tal2 during Neuronal Differentiation in P19 Cells. Yakugaku Zasshi. 2017;137:61-71 pubmed publisher
    ..Further work is underway to clarify the function of Tal2 in neural differentiation using the differentiation system of P19 cells. ..
  41. Inoue T, Tanaka Y, Otani R, Itabashi H, Murakami N, Nagai T, et al. [Three cases of Fanconi syndrome associated with valproate sodium treatment]. No To Hattatsu. 2011;43:233-7 pubmed
    ..Before developing Fanconi syndrome, hypouricemia was observed in all three and an increased urinary level of beta2 microglobulin (beta2MG) was also noted in one of the patients. None of these patients had hypophosphatemia...
  42. Takiguchi T, Koide H, Nagano H, Nakayama A, Fujimoto M, Tamura A, et al. Multihormonal pituitary adenoma concomitant with Pit-1 and Tpit lineage cells causing acromegaly associated with subclinical Cushing's disease: a case report. BMC Endocr Disord. 2017;17:54 pubmed publisher
    ..a transsphenoidal surgery sample of the pituitary gland revealed that ACTH-related genes, such as POMC, Tpit, and NeuroD1 mRNA, had higher expression in the tumor tissue than the nonfunctional adenoma but lower expression compared to ..
  43. Onai N, Asano J, Kurosaki Nakamura R, Kuroda S, Ohteki T. Flexible fate commitment of E2-2high common DC progenitors implies tuning in tissue microenvironments. Int Immunol. 2017;: pubmed publisher
    ..Our findings reveal the commitment and flexibility of E2-2high progenitor differentiation, and imply that pertinent tuning machinery is present in the gut microenvironment...
  44. Gorrepati K, He W, Lupse B, Yuan T, Maedler K, Ardestani A. An SCFFBXO28 E3 Ligase Protects Pancreatic β-Cells from Apoptosis. Int J Mol Sci. 2018;19: pubmed publisher
    ..Although FBXO28 expression positively correlated with β-cell transcription factor NEUROD1 and FBXO28 depletion also reduced insulin mRNA expression, neither FBXO28 overexpression nor depletion had ..
  45. Kelly H. The assessment of childhood asthma. Pediatr Clin North Am. 2003;50:593-608 pubmed
    ..The various outcomes measures listed by the guidelines (symptoms, nocturnal awakenings, rescue beta2-agonist use, and lung function) and their response to therapy are predictive of severe exacerbations from asthma...
  46. Westerman B, Breuer R, Poutsma A, Chhatta A, Noorduyn L, Koolen M, et al. Basic helix-loop-helix transcription factor profiling of lung tumors shows aberrant expression of the proneural gene atonal homolog 1 (ATOH1, HATH1, MATH1) in neuroendocrine tumors. Int J Biol Markers. 2007;22:114-23 pubmed
    ..1 (ASCL1, HASH1, Mash1), atonal homolog 1 (ATOH1, HATH1, MATH1), NEUROD4 (ATH-3, Atoh3, MATH-3) and neurogenic differentiation factor 1 (NEUROD1, NEUROD, BETA2), showed differential expression among lung tumors and absent or low ..
  47. Li Y, Li N, Yan Z, Li H, Chen L, Zhang Z, et al. Dysregulation of the NLRP3 inflammasome complex and related cytokines in patients with multiple myeloma. Hematology. 2016;21:144-51 pubmed publisher
    ..We further demonstrated that NLRP3 mRNA was negatively correlated with beta2-microglobulin and plasma cell percentage in MM...
  48. Lee B, Kasparis C, Chen B, Mei H, Edelmann L, Moss C, et al. Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetrance. J Hum Genet. 2015;60:717-22 pubmed publisher
    ..22p36.21 copy number variant to determine whether the duplication/triplication is de novo or inherited, for informed reproductive and genetic counseling. ..
  49. Balaji S, Zhou Y, Ganguly A, Opara E, Soker S. The combined effect of PDX1, epidermal growth factor and poly-L-ornithine on human amnion epithelial cells' differentiation. BMC Dev Biol. 2016;16:8 pubmed publisher
    ..Other markers of various stages of pancreatic differentiation such as NKX6.1, SOX17, RFX6, FOXA2, CFTR, NEUROD1, PAX4 and PPY were also expressed upon Pdx1 transduction...
  50. Kanda M, Yamanaka H, Kojo S, Usui Y, Honda H, Sotomaru Y, et al. Transcriptional regulator Bhlhe40 works as a cofactor of T-bet in the regulation of IFN-? production in iNKT cells. Proc Natl Acad Sci U S A. 2016;113:E3394-402 pubmed publisher
    ..These results indicate that Bhlhe40 works as a cofactor of T-bet for enhancing IFN-? production in iNKT cells. ..
  51. Carmel Neiderman N, Tanne D, Goren I, Rotman Pikielny P, Levy Y. Classical and additional antiphospholipid antibodies in blood samples of ischemic stroke patients and healthy controls. Immunol Res. 2017;65:470-476 pubmed publisher
    ..Subjects were tested for the presence of the classical aPL antibodies anticardiolipin (aCL) and anti-beta2-glycoprotein (aβ2gI), in addition to antiphosphatidylethanolamine (aPE), anti-phosphatidylserine (aPS), and ..
  52. Smith D, Yang J, Liu M, Zhang C. Small Molecules Modulate Chromatin Accessibility to Promote NEUROG2-Mediated Fibroblast-to-Neuron Reprogramming. Stem Cell Reports. 2016;7:955-969 pubmed publisher
    ..CREB1 promotes neuron survival and acts with NEUROG2 to upregulate SOX4, which co-activates NEUROD1 and NEUROD4...
  53. Boulay G, Awad M, Riggi N, Archer T, Iyer S, Boonseng W, et al. OTX2 Activity at Distal Regulatory Elements Shapes the Chromatin Landscape of Group 3 Medulloblastoma. Cancer Discov. 2017;7:288-301 pubmed publisher
    ..enhancers are often arranged as clusters of adjacent peaks and are also bound by the transcription factor NEUROD1. These sites are responsive to OTX2 and NEUROD1 knockdown and could also be generated de novo..
  54. Zhu X, Zhang J, Wang Q, Fu H, Chang Y, Kong Y, et al. Diminished expression of β2-GPI is associated with a reduced ability to mitigate complement activation in anti-GPIIb/IIIa-mediated immune thrombocytopenia. Ann Hematol. 2018;97:641-654 pubmed publisher
    ..However, the role of the complement system and the involved regulatory mechanism remain equivocal. Beta2-glycoprotein I (β2-GPI), known as the main target for antiphospholipid autoantibodies, has been demonstrated as ..
  55. Seko Y, Azuma N, Kaneda M, Nakatani K, Miyagawa Y, Noshiro Y, et al. Derivation of human differential photoreceptor-like cells from the iris by defined combinations of CRX, RX and NEUROD. PLoS ONE. 2012;7:e35611 pubmed publisher
    ..in induced photoreceptor cells were dependent on combinations of transcription factors: A combination of CRX and NEUROD induced rhodopsin and blue opsin, but did not induce green opsin; a combination of CRX and RX induced blue opsin ..
  56. Fukuda T, Shirane A, Wada Hiraike O, Oda K, Tanikawa M, Sakuabashi A, et al. HAND2-mediated proteolysis negatively regulates the function of estrogen receptor α. Mol Med Rep. 2015;12:5538-44 pubmed publisher
    ..Considering that HAND2 is commonly hypermethylated and silenced in endometrial cancer, it is hypothesized that HAND2 may serve as a possible tumor suppressor, particularly in uterine tissue. ..
  57. Noguchi T, Nakagome K, Kobayashi T, Ueda Y, Soma T, Nakamoto H, et al. Effect of beta2-adrenergic agonists on eosinophil adhesion, superoxide anion generation, and degranulation. Allergol Int. 2015;64 Suppl:S46-53 pubmed publisher
    ..As these factors are involved in the development of asthma exacerbation, our results strongly support the hypothesis that administration of formoterol is a novel strategy for treating asthma exacerbation. ..
  58. Zheng Y, Wang Z, Tu Y, Shen H, Dai Z, Lin J, et al. miR-101a and miR-30b contribute to inflammatory cytokine-mediated β-cell dysfunction. Lab Invest. 2015;95:1387-97 pubmed publisher
    ..and miR-30b reduce proinsulin expression and insulin content by directly targeting the transcriptional factor Neurod1. In addition, β-cell apoptosis mediated by miR-101a and miR-30b is associated with diminished expression level ..
  59. Dimpfel W, Schombert L, Gericke N. Electropharmacogram of Sceletium tortuosum extract based on spectral local field power in conscious freely moving rats. J Ethnopharmacol. 2016;177:140-7 pubmed publisher
    ..Spectral power was evaluated for 8 frequency ranges, namely delta, theta, alpha1, alpha2, beta1a, beta1b, beta2 and gamma power. Zembrin® dose dependently attenuated all frequency ranges, to varying degrees...
  60. Manczak E, Dougherty B, Chen E. Parental Depressive Symptoms Potentiate the Effect of Youth Negative Mood Symptoms on Gene Expression in Children with Asthma. J Abnorm Child Psychol. 2019;47:99-108 pubmed publisher
    ..negative mood symptoms, and youths completed blood draws from which expression of Glucocorticoid Receptor (GR) and Beta2 Adrenergic Receptor (β2-AR) genes was extracted...
  61. Kanatsuka A, Tokuyama Y, Nozaki O, Matsui K, Egashira T. Beta-cell dysfunction in late-onset diabetic subjects carrying homozygous mutation in transcription factors NeuroD1 and Pax4. Metabolism. 2002;51:1161-5 pubmed
    Polymorphisms in beta-cell transcription factor genes, Ala45Thr in the NeuroD1 gene and Arg121Trp in the Pax4 gene, have been reported...
  62. Fournié P, Gordon G, Dawson D, Malecaze F, Edelhauser H, Fini M. Correlation between epithelial ingrowth and basement membrane remodeling in human corneas after laser-assisted in situ keratomileusis. Arch Ophthalmol. 2010;128:426-36 pubmed publisher
    ..Transforming growth factor beta2 was present into the stroma of some corneas with epithelial ingrowth and interrupted basement membrane, suggesting ..
  63. Lee N, Park J, Kim K, Choi G. The Transcriptional Coregulator LEUNIG_HOMOLOG Inhibits Light-Dependent Seed Germination in Arabidopsis. Plant Cell. 2015;27:2301-13 pubmed publisher
    ..Unexpectedly, we found LUH binds and coregulates not only PIF1-activated targets but also PIF1-repressed targets. Together, our results indicate LUH functions with PIF1 as a transcriptional coregulator to inhibit seed germination. ..
  64. Li H, Wen F, Chen H, Pal M, Lai Y, Zhao A, et al. Micropatterning Extracellular Matrix Proteins on Electrospun Fibrous Substrate Promote Human Mesenchymal Stem Cell Differentiation Toward Neurogenic Lineage. ACS Appl Mater Interfaces. 2016;8:563-73 pubmed publisher
    ..on the expression of neural lineage commitment markers, such as microtubule associated protein 2 (MAP2), Nestin, NeuroD1, and Class III β-Tubulin, were revealed from mRNA expression by quantitative Real Time PCR (qRT-PCR) and MAP2 ..
  65. Mobascher A, Diaz Lacava A, Wagner M, Gallinat J, Wienker T, Drichel D, et al. Association of Common Polymorphisms in the Nicotinic Acetylcholine Receptor Alpha4 Subunit Gene with an Electrophysiological Endophenotype in a Large Population-Based Sample. PLoS ONE. 2016;11:e0152984 pubmed publisher
    ..Single nucleotide polymorphisms (SNPs) in the CHRNA4 gene that codes for the alpha4 subunit of alpha4/beta2-containing receptors have previously been implicated in aspects of (mostly visual) attention and smoking-related ..
  66. Kasahara H, Hiroyuki N, Shinohara M, Koike T. AP-VAS 2012 case report: an atypical case of microscopic polyangiitis presenting with acute tubulointerstitial nephritis without glomerular change. CEN Case Rep. 2014;3:1-4 pubmed publisher
    ..The urinary excretion of N-acetyl-beta-D-glucosaminidase and beta2-microglobulin concentration were 30.3 U/ml and 42270 ?g/ml, respectively...
  67. Ni S, Ye M, Huang T. Short stature homeobox 2 methylation as a potential noninvasive biomarker in bronchial aspirates for lung cancer diagnosis. Oncotarget. 2017;8:61253-61263 pubmed publisher
    ..001). Methylated P16, RASSF1A, APC and retinoic acid receptor beta2 (RAR?2) genes had similar frequencies in these two histotypes (P > 0.1)...
  68. Ferretti E, Di Stefano D, Zazzeroni F, Gallo R, Fratticci A, Carfagnini R, et al. Human pituitary tumours express the bHLH transcription factors NeuroD1 and ASH1. J Endocrinol Invest. 2003;26:957-65 pubmed
    ..Members of bHLH family include NeuroD1 and ASH1, both involved in neuroendocrine differentiation...
  69. Chu W, Yuan J, Huang L, Xiang X, Zhu H, Chen F, et al. Valproic Acid Arrests Proliferation but Promotes Neuronal Differentiation of Adult Spinal NSPCs from SCI Rats. Neurochem Res. 2015;40:1472-86 pubmed publisher
    ..Cell cycle regulator p21(Cip/WAF1) and proneural genes Ngn2 and NeuroD1 were increased in the two processes respectively...
  70. Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, et al. Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. Am J Hum Genet. 2015;97:99-110 pubmed publisher
    ..Our results suggest that autosomal-dominant TWIST2 mutations cause AMS or BSS by inducing protean effects on the transcription factor's DNA binding. ..
  71. Zeglinski M, Roche P, Hnatowich M, Jassal D, Wigle J, Czubryt M, et al. TGFβ1 regulates Scleraxis expression in primary cardiac myofibroblasts by a Smad-independent mechanism. Am J Physiol Heart Circ Physiol. 2016;310:H239-49 pubmed publisher
    ..Thus we have identified a novel TGFβ1-driven, Smad-independent, signaling cascade that may play an important role in regulating the fibrotic response in activated cardiac myofibroblasts following cardiac injury. ..
  72. Werner P, Latney B, Deardorff M, Goldmuntz E. MESP1 Mutations in Patients with Congenital Heart Defects. Hum Mutat. 2016;37:308-14 pubmed publisher
    ..Our results suggest that pathologic variants in MESP1 may contribute to the development of CHD and that additional protein partners and downstream targets could likewise contribute to the wide range of causes for CHD. ..
  73. Wang W, Shi Q, Guo T, Yang Z, Jia Z, Chen P, et al. PDX1 and ISL1 differentially coordinate with epigenetic modifications to regulate insulin gene expression in varied glucose concentrations. Mol Cell Endocrinol. 2016;428:38-48 pubmed publisher
    ..The islet-restricted transcription factors PDX1 and ISL1 interact with BETA2, activating insulin gene expression...
  74. Hussein M, Sobhy K, Sabry I, El Serafi A, Toraih E. Beta2-adrenergic receptor gene haplotypes and bronchodilator response in Egyptian patients with chronic obstructive pulmonary disease. Adv Med Sci. 2017;62:193-201 pubmed publisher
    ..Our findings suggested that the ADRB2 gene polymorphisms may have vital role in COPD risk, severity, and bronchodilator response among Egyptian population. Larger epidemiological studies are needed for results validation. ..
  75. Westerman B, Poutsma A, Maruyama K, Schrijnemakers H, van Wijk I, Oudejans C. The proneural genes NEUROD1 and NEUROD2 are expressed during human trophoblast invasion. Mech Dev. 2002;113:85-90 pubmed
    ..Surprisingly, the presence of NEUROD1, NEUROD2 and ATH2 transcripts was found by reverse transcriptase polymerase chain reaction (RT-PCR) analysis in ..
  76. Cho J, Tsai M. The role of BETA2/NeuroD1 in the development of the nervous system. Mol Neurobiol. 2004;30:35-47 pubmed
    BETA2/NeuroD1 is a member of the basic helix-loop-helix (bHLH) transcription factor family, which has been shown to play a major role in development of the nervous system and formation of the endocrine system...
  77. Cindolo L, Franco R, Cantile M, Schiavo G, Liguori G, Chiodini P, et al. NeuroD1 expression in human prostate cancer: can it contribute to neuroendocrine differentiation comprehension?. Eur Urol. 2007;52:1365-73 pubmed
    Neuroendocrine differentiation is a common feature of prostate cancer (pCA). NeuroD1 is a neuronal transcription factor able to convert epithelial cells into neurons...
  78. Ishizuka N, Minami K, Okumachi A, Okuno M, Seino S. Induction by NeuroD of the components required for regulated exocytosis. Biochem Biophys Res Commun. 2007;354:271-7 pubmed
    b>NeuroD is a transcriptional factor critical in differentiation of neuronal cells, enteroendocrine cells, and pancreatic endocrine cells. However, little is known of its roles in cellular functions...
  79. Sciarra A. Neuroendocrine differentiation in prostate adenocarcinoma. Eur Urol. 2007;52:1373 pubmed
  80. Wang Y, Chen Y, Gao L, Zhu M. [Expression and significance of neurogenic differentiation protein in pancreatic carcinoma]. Zhonghua Bing Li Xue Za Zhi. 2012;41:23-7 pubmed
    To investigate the expression and significance of neurogenic differentiation protein (NeuroD) in pancreatic carcinoma...
  81. Lu F, Kishida S, Mu P, Huang P, Cao D, Tsubota S, et al. NeuroD1 promotes neuroblastoma cell growth by inducing the expression of ALK. Cancer Sci. 2015;106:390-6 pubmed publisher
    ..The neuronal differentiation factor, NeuroD1, has previously been shown to promote cell motility in neuroblastoma by suppressing the expression of Slit2...
  82. Donakonda S, Sinha S, Dighe S, Rao M. System analysis identifies distinct and common functional networks governed by transcription factor ASCL1, in glioma and small cell lung cancer. Mol Biosyst. 2017;13:1481-1494 pubmed publisher
    ..In addition, we also observed ASCL1 governed functional networks that are distinct to glioma and SCLC. ..
  83. Kim M, Sung K, Shin J, Young Yoon J, Jang J. Statins reduce TGF-beta2-modulation of the extracellular matrix in cultured astrocytes of the human optic nerve head. Exp Eye Res. 2017;164:55-63 pubmed publisher
  84. Jeffery N, Richardson S, Beall C, Harries L. The species origin of the cellular microenvironment influences markers of beta cell fate and function in EndoC-βH1 cells. Exp Cell Res. 2017;361:284-291 pubmed publisher
    ..No differences were noted in the protein expression of mature beta cell markers such as Pdx1 and NeuroD1 were noted in EndoC-βH1 cells grown in a human microenvironment but cells were however more sensitive to glucose ..
  85. Iwai R, Tabata H, Inoue M, Nomura K, Okamoto T, Ichihashi M, et al. A Prdm8 target gene Ebf3 regulates multipolar-to-bipolar transition in migrating neocortical cells. Biochem Biophys Res Commun. 2018;495:388-394 pubmed publisher
    ..Moreover, we found that Ebf3 knockdown represses NeuroD1 transcription, and NeuroD1 overexpression partially rescued migration defects in Ebf3 knockdown cells...
  86. Gonzalez Nunez V. Role of gabra2, GABAA receptor alpha-2 subunit, in CNS development. Biochem Biophys Rep. 2015;3:190-201 pubmed publisher
    ..The transcriptional activity of neuroD (a proneural gene involved in early neuronal determination) was down-regulated in gabra2 deficient ..
  87. Behar S, Dascher C, Grusby M, Wang C, Brenner M. Susceptibility of mice deficient in CD1D or TAP1 to infection with Mycobacterium tuberculosis. J Exp Med. 1999;189:1973-80 pubmed
    ..tuberculosis organisms via granulysin and the rapid death after infection of beta2 microglobulin deficient mice in humans has drawn attention to a critical role for CD8(+) T cells...
  88. Noma T, Yoon Y, Yamashiro Y, Fujisawa K, Nakazawa A. Regulation of NeuroD expression by activation of the protein kinase-C pathway in Y79 human retinoblastoma cells. Neurosci Lett. 1999;272:45-8 pubmed
    To examine the signals that regulate NeuroD expression, we analyzed the effects of activation of two major signal pathways, the protein kinase A (PKA) pathway and the protein kinase C (PKC) pathway, on the expression of NeuroD in Y79human ..
  89. Piguet P, Vesin C, Rochat A. Beta2 integrin modulates platelet caspase activation and life span in mice. Eur J Cell Biol. 2001;80:171-7 pubmed
    We explored the role of CD18 (beta2 integrin) in platelet physiology, using mice genetically deficient in CD18 (CD18 -/-), or its main ligand CD54 (ICAM-1, CD54 -/-)...
  90. Ray S, Nishitani J, Petry M, Fessing M, Leiter A. Novel transcriptional potentiation of BETA2/NeuroD on the secretin gene promoter by the DNA-binding protein Finb/RREB-1. Mol Cell Biol. 2003;23:259-71 pubmed
    The basic helix-loop-helix protein BETA2/NeuroD activates transcription of the secretin gene and is essential for terminal differentiation of secretin-producing enteroendocrine cells...
  91. Mann H, Al Bashir A, Melzer H, Stiller S. Diacap alpha-polysulfone HI PS: a new dialysis membrane with optimum beta2-microglobulin elimination. Int J Artif Organs. 2003;26:461-6 pubmed
    Plasma concentration of beta2-microglobulin (beta2-m) in the case of renal insufficiency is about 20 to 30 times higher than normal. Beta2-m is associated with secondary amyloidosis, a late complication of regular dialysis therapy...
  92. Marcora E, Gowan K, Lee J. Stimulation of NeuroD activity by huntingtin and huntingtin-associated proteins HAP1 and MLK2. Proc Natl Acad Sci U S A. 2003;100:9578-83 pubmed
    b>NeuroD (ND) is a basic helix-loop-helix transcription factor important for neuronal development and survival...