-
1
-
-
77349124208
-
Phenotypic and pathomorphological characteristics of a novel mutant mouse model for maturity-onset diabetes of the young type 2 (MODY 2)
-
van Burk L, Blutke A, Kautz S, Rathkolb B, Klaften M, Wagner S, et al. Phenotypic and pathomorphological characteristics of a novel mutant mouse model for maturity-onset diabetes of the young type 2 (MODY 2). Am J Physiol Endocrinol Metab 2009; 298:512-23.
-
(2009)
Am J Physiol Endocrinol Metab
, vol.298
, pp. 512-523
-
-
Van Burk, L.1
Blutke, A.2
Kautz, S.3
Rathkolb, B.4
Klaften, M.5
Wagner, S.6
-
2
-
-
65549097996
-
Functional targets of the monogenic diabetes transcription factors HNF-1α and HNF-4α are highly conserved between mice and humans
-
Boj SF, Servitja JM, Martin D, Rios M, Talianidis I, Guigo R, et al. Functional targets of the monogenic diabetes transcription factors HNF-1α and HNF-4α are highly conserved between mice and humans. Diabetes 2009; 58:1245-53.
-
(2009)
Diabetes
, vol.58
, pp. 1245-1253
-
-
Boj, S.F.1
Servitja, J.M.2
Martin, D.3
Rios, M.4
Talianidis, I.5
Guigo, R.6
-
3
-
-
76749108047
-
Rfx6 directs islet formation and insulin production in mice and humans
-
Smith SB, Qu HQ, Taleb N, Kishimoto NY, Scheel DW, Lu Y, et al. Rfx6 directs islet formation and insulin production in mice and humans. Nature 2010; 463:775-80.
-
(2010)
Nature
, vol.463
, pp. 775-780
-
-
Smith, S.B.1
Qu, H.Q.2
Taleb, N.3
Kishimoto, N.Y.4
Scheel, D.W.5
Lu, Y.6
-
4
-
-
0033856122
-
Nonsense mutation of islet-1 gene (Q310X) found in a type 2 diabetic patient with a strong family history
-
Shimomura H, Sanke T, Hanabusa T, Tsunoka K, Furuta H, Nanjo K. Nonsense mutation of islet-1 gene (Q310X) found in a type 2 diabetic patient with a strong family history. Diabetes 2000; 49:1597-600.
-
(2000)
Diabetes
, vol.49
, pp. 1597-1600
-
-
Shimomura, H.1
Sanke, T.2
Hanabusa, T.3
Tsunoka, K.4
Furuta, H.5
Nanjo, K.6
-
5
-
-
78649322855
-
Maturity-onset diabetes of the young (MODY): How many cases are we missing?
-
Shields BM, Hicks S, Shepherd MH, Colclough K, Hattersley AT, Ellard S. Maturity-onset diabetes of the young (MODY): how many cases are we missing? Diabetologia 2010; 53:2504-8.
-
(2010)
Diabetologia
, vol.53
, pp. 2504-2508
-
-
Shields, B.M.1
Hicks, S.2
Shepherd, M.H.3
Colclough, K.4
Hattersley, A.T.5
Ellard, S.6
-
6
-
-
0032718689
-
Defective mutations in the insulin promoter factor-1 (IPF-1) gene in late-onset type 2 diabetes mellitus
-
Hani EH, Stofers DA, Chevre JC, Durand E, Stanojevic V, Dina C, et al. Defective mutations in the insulin promoter factor-1 (IPF-1) gene in late-onset type 2 diabetes mellitus. J Clin Invest 1999; 104:41-8.
-
(1999)
J Clin Invest
, vol.104
, pp. 41-48
-
-
Hani, E.H.1
Stofers, D.A.2
Chevre, J.C.3
Durand, E.4
Stanojevic, V.5
Dina, C.6
-
7
-
-
48249139502
-
Common variants in maturity-onset diabetes of the young genes and future risk of type 2 diabetes
-
Holmkvist J, Almgren P, Lyssenko V, Lindgren CM, Erikson KF, Isomaa B, et al. Common variants in maturity-onset diabetes of the young genes and future risk of type 2 diabetes. Diabetes 2008; 57:1738-44.
-
(2008)
Diabetes
, vol.57
, pp. 1738-1744
-
-
Holmkvist, J.1
Almgren, P.2
Lyssenko, V.3
Lindgren, C.M.4
Erikson, K.F.5
Isomaa, B.6
-
8
-
-
20144389645
-
Role of transcription factor KLF11 and its diabetes-associated gene variants in pancreatic beta cell function
-
DOI 10.1073/pnas.0409177102
-
Neve B, Fernandez-Zapico ME, Ashkenazi-Katalan V, Dina C, Hamid YH, Joly E, et al. Role of transcription factor KLF11 and its diabetes-associated gene variants in pancreatic beta cell function. Proc Natl Acad Sci USA 2005; 102:4807-12. (Pubitemid 40471535)
-
(2005)
Proceedings of the National Academy of Sciences of the United States of America
, vol.102
, Issue.13
, pp. 4807-4812
-
-
Neve, B.1
Fernandez-Zapico, M.E.2
Ashkenazi-Katalan, V.3
Dina, C.4
Hamid, Y.H.5
Joly, E.6
Vaillant, E.7
Benmezroua, Y.8
Durand, E.9
Bakaher, N.10
Delannoy, V.11
Vaxillaire, M.12
Cook, T.13
Dallinga-Thie, G.M.14
Jansen, H.15
Charles, M.-A.16
Clement, K.17
Galan, P.18
Hercberg, S.19
Helbecque, N.20
Charpentier, G.21
Prentki, M.22
Hansen, T.23
Pedersen, O.24
Urrutia, R.25
Melloul, D.26
Froguel, P.27
more..
-
9
-
-
78951478527
-
Alx3-deficient mice exhibit decreased insulin in beta cells, altered glucose homeostasis and increased apoptosis in pancreatic islets
-
DOI: 10.1007/s00125-010-1975-6
-
Mirasierra M, Fernández-Pérez A, Díaz-Prieto N, Vallejo M. Alx3-deficient mice exhibit decreased insulin in beta cells, altered glucose homeostasis and increased apoptosis in pancreatic islets. Dabetologia 2011; DOI: 10.1007/s00125-010-1975-6.
-
(2011)
Dabetologia
-
-
Mirasierra, M.1
Fernández-Pérez, A.2
Díaz-Prieto, N.3
Vallejo, M.4
-
10
-
-
0029417331
-
Pancreatic β-cell-specific targeted disruption of glucokinase gene. Diabetes mellitus due to defective insulin secretion to glucose
-
Terauchi Y, Sakura H, Yasuda K, Iwamoto K, Takahashi N, Ito K, et al. Pancreatic β-cell-specific targeted disruption of glucokinase gene. Diabetes mellitus due to defective insulin secretion to glucose. J Biol Chem 1995; 270:30253-6.
-
(1995)
J Biol Chem
, vol.270
, pp. 30253-30256
-
-
Terauchi, Y.1
Sakura, H.2
Yasuda, K.3
Iwamoto, K.4
Takahashi, N.5
Ito, K.6
-
11
-
-
8044260804
-
Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families
-
DOI 10.1007/s001250050666
-
Velho G, Blanch H, Vaxillaire M, Bellane-Chandelot C, Pardini VC, Timsit J, et al. Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families. Diabetologia 1997; 40:217-24. (Pubitemid 27060296)
-
(1997)
Diabetologia
, vol.40
, Issue.2
, pp. 217-224
-
-
Velho, G.1
Blanche, H.2
Vaxillaire, M.3
Bellanne-Chantelot, C.4
Pardini, V.C.5
Timsit, J.6
Passa, P.7
Deschamps, I.8
Robert, J.-J.9
Weber, I.T.10
Marotta, D.11
Pilkis, S.J.12
Lipkind, G.M.13
Bell, G.I.14
Froguel, P.15
-
12
-
-
33751552385
-
The homeoprotein Alx3 expressed in pancreatic β-cells regulates insulin gene transcription by interacting with the basic helix-loop-helix protein E47
-
DOI 10.1210/me.2005-0472
-
Mirasierra M, Vallejo M. The homeoprotein Alx3 expressed in pancreatic β-cells regulates insulin gene transcription by interacting with the basic helix-loop-helix protein E47. Mol Endocrinol 2006; 20:2876-89. (Pubitemid 44833542)
-
(2006)
Molecular Endocrinology
, vol.20
, Issue.11
, pp. 2876-2889
-
-
Mirasierra, M.1
Vallejo, M.2
-
13
-
-
41149084500
-
Clinical implications of a molecular genetic classification of monogenic β-cell diabetes
-
DOI 10.1038/ncpendmet0778, PII NCPENDMET0778
-
Murphy R, Ellard S, Hattersley AT. Clinical implications of a molecular genetic classification of monogenic β-cell diabetes. Nat Clin Pract Endoc 2008; 4:200-13. (Pubitemid 351430925)
-
(2008)
Nature Clinical Practice Endocrinology and Metabolism
, vol.4
, Issue.4
, pp. 200-213
-
-
Murphy, R.1
Ellard, S.2
Hattersley, A.T.3
-
14
-
-
0033370681
-
Vertebrate aristaless-related genes
-
Meijlink F, Beverdam A, Brouwer A, Oosterveen TC, Ten Berge D. Vertebrate aristaless-related genes. Int J Dev Biol 1999; 43:651-63.
-
(1999)
Int J Dev Biol
, vol.43
, pp. 651-663
-
-
Meijlink, F.1
Beverdam, A.2
Brouwer, A.3
Oosterveen, T.C.4
Ten Berge, D.5
-
15
-
-
0034885382
-
Expression patterns of group-I aristaless-related genes during craniofacial and limb development
-
PII S0925477301004506
-
Beverdam A, Meijlink F. Expression patterns of group-I aristaless-related genes during craniofacial and limb development. Mech Dev 2001; 107:163-7. (Pubitemid 32755814)
-
(2001)
Mechanisms of Development
, vol.107
, Issue.1-2
, pp. 163-167
-
-
Beverdam, A.1
Meijlink, F.2
-
16
-
-
17744376805
-
Genetics of shoulder girdle formation: Roles of Tbx15 and aristaless-like genes
-
DOI 10.1242/dev.01735
-
Kuijper S, Beverdam A, Kroon C, Brouwer A, Candille S, Barsh G, et al. Genetics of shoulder girdle formation: roles of Tbx15 and aristaless-like genes. Development 2005; 132:1601-10. (Pubitemid 40575861)
-
(2005)
Development
, vol.132
, Issue.7
, pp. 1601-1610
-
-
Kuijper, S.1
Beverdam, A.2
Kroon, C.3
Brouwer, A.4
Candille, S.5
Barsh, G.6
Meijlink, F.7
-
17
-
-
77955266658
-
Alx3- Deficient mice exhibit folic acid-resistant craniofacial midline and neural tube closure defects
-
Lakhwani S, Garcia-Sanz P, Vallejo M. Alx3- deficient mice exhibit folic acid-resistant craniofacial midline and neural tube closure defects. Dev Biol 2010; 344:869-80.
-
(2010)
Dev Biol
, vol.344
, pp. 869-880
-
-
Lakhwani, S.1
Garcia-Sanz, P.2
Vallejo, M.3
-
18
-
-
0142091542
-
Opposing actions of Arx and Pax4 in endocrine pancreas development
-
DOI 10.1101/gad.269003
-
Collombat P, Mansouri A, Hecksher-Sorensen J, Serup P, Krull J, Gradwohl G, et al. Opposing actions of Arx and Pax4 in endocrine pancreas development. Genes Dev 2003; 17:2591-603. (Pubitemid 37271428)
-
(2003)
Genes and Development
, vol.17
, Issue.20
, pp. 2591-2603
-
-
Collombat, P.1
Mansouri, A.2
Hecksher-Sorensen, J.3
Serup, P.4
Krull, J.5
Gradwohl, G.6
Gruss, P.7
-
19
-
-
77955082451
-
ARX spectrum disorders: Making inroads into the molecular pathology
-
Shoubridge C, Fullston T, Gecz J. ARX spectrum disorders: Making inroads into the molecular pathology. Hum Mutat 2010; 31:889-900.
-
(2010)
Hum Mutat
, vol.31
, pp. 889-900
-
-
Shoubridge, C.1
Fullston, T.2
Gecz, J.3
-
20
-
-
77957320355
-
Partial loss of pancreas endocrine and exocrine cells of human ARX-null mutation: Consideration of pancreas differentietion
-
Itoh M, Takizawa Y, Hanai S, Okazaki S, Miyata R, Inoue T, et al. Partial loss of pancreas endocrine and exocrine cells of human ARX-null mutation: Consideration of pancreas differentietion. Differentiation 2010; 80:118-22.
-
(2010)
Differentiation
, vol.80
, pp. 118-122
-
-
Itoh, M.1
Takizawa, Y.2
Hanai, S.3
Okazaki, S.4
Miyata, R.5
Inoue, T.6
-
21
-
-
70350671697
-
ALX4 dysfunction disrupts craniofacial and epidermal development
-
Kayserili H, Uz E, Niessen C, Vargel I, Alanay Y, Tuncbilek G, et al. ALX4 dysfunction disrupts craniofacial and epidermal development. Hum Mol Genet 2009; 18:4357-66.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 4357-4366
-
-
Kayserili, H.1
Uz, E.2
Niessen, C.3
Vargel, I.4
Alanay, Y.5
Tuncbilek, G.6
-
22
-
-
0035158663
-
Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects
-
DOI 10.1038/83703
-
Mavrogiannis LA, Antonopoulou I, Baxová A, Kutílek S, Kim CA, Sugayama SM, et al. Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects. Nat Genet 2001; 27:17-8. (Pubitemid 32044511)
-
(2001)
Nature Genetics
, vol.27
, Issue.1
, pp. 17-18
-
-
Mavrogiannis, L.A.1
Antonopoulou, I.2
Baxova, A.3
Kutilek, S.4
Kim, C.A.5
Sugayama, S.M.6
Salamanca, A.7
Wall, S.A.8
Morriss-Kay, G.M.9
Wilkie, A.O.M.10
-
23
-
-
33847176604
-
A genome-wide association study identifies novel risk loci for type 2 diabetes
-
Sladek R, Rocheleau G, Rung J, Dina C, Shen L, Serre D, et al. A genome-wide association study identifies novel risk loci for type 2 diabetes. Nature 2007; 445:881-5.
-
(2007)
Nature
, vol.445
, pp. 881-885
-
-
Sladek, R.1
Rocheleau, G.2
Rung, J.3
Dina, C.4
Shen, L.5
Serre, D.6
-
24
-
-
0034754798
-
Severe nasal clefting and abnormal embryonic apoptosis in Alx3/Alx4 double mutant mice
-
Beverdam A, Brouwer A, Reijnen M, Korving J, Meijlink F. Severe nasal clefting and abnormal embryonic apoptosis in Alx3/Alx4 double mutant mice. Development 2001; 128:3975-86. (Pubitemid 33040605)
-
(2001)
Development
, vol.128
, Issue.20
, pp. 3975-3986
-
-
Beverdam, A.1
Brouwer, A.2
Reijnen, M.3
Korving, J.4
Meijlink, F.5
-
25
-
-
65149104203
-
Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene
-
Twigg SRF, Versnel SL, Nurnberg G, Lees MM, Bhat M, Hammond P, et al. Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. Am J Hum Genet 2009; 84:1-8.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 1-8
-
-
Twigg, S.R.F.1
Versnel, S.L.2
Nurnberg, G.3
Lees, M.M.4
Bhat, M.5
Hammond, P.6
-
26
-
-
0030782397
-
Polydactyly and ectopic ZPA formation in Alx-4 mutant mice
-
Qu S, Niswender KD, Ji Q, van der Meer R, Keeney D, Magnuson MA, et al. Polydactyly and ectopic ZPA formation in Alx-4 mutant mice. Development 1997; 124:3999-4008. (Pubitemid 27483327)
-
(1997)
Development
, vol.124
, Issue.20
, pp. 3999-4008
-
-
Qu, S.1
Niswender, K.D.2
Ji, Q.3
Van Der, M.R.4
Keeney, D.5
Magnuson, M.A.6
Wisdom, R.7
-
27
-
-
59849099098
-
Preaxial hallucal polydactyly as a marker for diabetic embryopathy
-
Adam MP, Hudgins L, Carey JC, Hall BD, Coleman K, Gripp KW, et al. Preaxial hallucal polydactyly as a marker for diabetic embryopathy. Birth Defects Res A Clin Mol Teratol 2008; 85:13-9.
-
(2008)
Birth Defects Res A Clin Mol Teratol
, vol.85
, pp. 13-19
-
-
Adam, M.P.1
Hudgins, L.2
Carey, J.C.3
Hall, B.D.4
Coleman, K.5
Gripp, K.W.6
|