Skip to content
PubMed This is a summary of 92 peer-reviewed journal articles Updated

Research & Literature

Explore the leading researchers and institutions driving advances in this area, and dive into the full body of literature that informs this resource.

Explore the Literature Visualize citation networks across 92 referenced papers

Top Authors

Andrew T. Hattersley
University of Exeter
Kashyap Patel
University of Exeter
Toni I. Pollin
University of Maryland, Baltimore
Beverley M. Shields
University of Exeter
Heidi L. Rehm
Broad Institute
Sue Richards
Oregon Health & Science University
Maurizio Delvecchio
University of L'Aquila
Richard A. Oram
University of Exeter
Ali Chakera
University of Exeter
Adrian Kee Keong Teo
Agency for Science, Technology and Research

Top Institutions

Ranked by publications Top 10 institutions

References

References (92)
  1. 1

    Recognition and Management of Individuals With Hyperglycemia Because of a Heterozygous Glucokinase Mutation.

    Chakera AJ, Steele AM, Gloyn AL, et al.

    Diabetes care 2015; (38(7)):1383-92 doi:10.2337/dc14-2769.

    PMID: 26106223
  2. 2

    [Hepatocyte nuclear factor 1α-inactivated hepatocellular adenomatosis in a patient with maturity-onset diabetes of the young type 3: case report and literature review].

    Hirata E, Shimizu S, Umeda S, et al.

    Nihon Shokakibyo Gakkai zasshi = The Japanese journal of gastro-enterology 2015; (112(9)):1696-704 doi:10.11405/nisshoshi.112.1696.

    PMID: 26346360
  3. 3

    Comment on Rudland et al. Identifying Glucokinase Monogenic Diabetes in a Multiethnic Gestational Diabetes Mellitus Cohort: New Pregnancy Screening Criteria and Utility of HbA1c. Diabetes Care 2016;39:50-52.

    Bhargava A, Siddiqui S, Waghdhare S, Jha S

    Diabetes care 2016; (39(1)):e6 doi:10.2337/dc15-1537.

    PMID: 26696667
  4. 4

    [Maturity onset diabetes of the young (MODY) - screening, diagnostic and therapy].

    Kaser S, Resl M

    Wiener klinische Wochenschrift 2016; (128 Suppl 2()):S204-7 doi:10.1007/s00508-015-0938-9.

    PMID: 27052244
  5. 5

    GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated.

    Carmody D, Naylor RN, Bell CD, et al.

    Acta diabetologica 2016; (53(5)):703-8 doi:10.1007/s00592-016-0859-8.

    PMID: 27106716
  6. 6

    Maturity-Onset Diabetes of the Young (MODY): Making the Right Diagnosis to Optimize Treatment.

    Amed S, Oram R

    Canadian journal of diabetes 2016; (40(5)):449-454 doi:10.1016/j.jcjd.2016.03.002.

    PMID: 27130141
  7. 7

    Prolonged episodes of hypoglycaemia in HNF4A-MODY mutation carriers with IGT. Evidence of persistent hyperinsulinism into early adulthood.

    Bacon S, Kyithar MP, Condron EM, et al.

    Acta diabetologica 2016; (53(6)):965-972 doi:10.1007/s00592-016-0890-9.

    PMID: 27552834
  8. 8

    Monogenic Diabetes Accounts for 6.3% of Cases Referred to 15 Italian Pediatric Diabetes Centers During 2007 to 2012.

    Delvecchio M, Mozzillo E, Salzano G, et al.

    The Journal of clinical endocrinology and metabolism 2017; (102(6)):1826-1834 doi:10.1210/jc.2016-2490.

    PMID: 28323911
  9. 9

    Clinical heterogeneity of type 1 diabetes (T1D) found in Asia.

    Park Y, Wintergerst KA, Zhou Z

    Diabetes/metabolism research and reviews 2017; (33(7)) doi:10.1002/dmrr.2907.

    PMID: 28544229
  10. 10

    Management of sulfonylurea-treated monogenic diabetes in pregnancy: implications of placental glibenclamide transfer.

    Shepherd M, Brook AJ, Chakera AJ, Hattersley AT

    Diabetic medicine : a journal of the British Diabetic Association 2017; (34(10)):1332-1339 doi:10.1111/dme.13388.

    PMID: 28556992
  11. 11

    Comprehensive screening for monogenic diabetes in 89 Japanese children with insulin-requiring antibody-negative type 1 diabetes.

    Ushijima K, Fukami M, Ayabe T, et al.

    Pediatric diabetes 2018; (19(2)):243-250 doi:10.1111/pedi.12544.

    PMID: 28597946
  12. 12

    [Clinical phenotypes of hepatocyte nuclear factor 1 homeobox b-associated disease].

    Wang F, Yao Y, Yang HX, et al.

    Zhonghua er ke za zhi = Chinese journal of pediatrics 2017; (55(9)):658-662 doi:10.3760/cma.j.issn.0578-1310.2017.09.006.

    PMID: 28881510
  13. 13

    The unique clinical spectrum of maturity onset diabetes of the young type 3.

    Lebenthal Y, Fisch Shvalb N, Gozlan Y, et al.

    Diabetes research and clinical practice 2018; (135()):18-22 doi:10.1016/j.diabres.2017.10.024.

    PMID: 29107759
  14. 14

    17q12 Deletion Syndrome as a Rare Cause for Diabetes Mellitus Type MODY5.

    Roehlen N, Hilger H, Stock F, et al.

    The Journal of clinical endocrinology and metabolism 2018; (103(10)):3601-3610 doi:10.1210/jc.2018-00955.

    PMID: 30032214
  15. 15

    Genetic causes and treatment of neonatal diabetes and early childhood diabetes.

    Barbetti F, D'Annunzio G

    Best practice & research. Clinical endocrinology & metabolism 2018; (32(4)):575-591 doi:10.1016/j.beem.2018.06.008.

    PMID: 30086875
  16. 16

    Traditional clinical criteria outperform high-sensitivity C-reactive protein for the screening of hepatic nuclear factor 1 alpha maturity-onset diabetes of the young among young Asians with diabetes.

    Rama Chandran S, Bhalshankar J, Farhad Vasanwala R, et al.

    Therapeutic advances in endocrinology and metabolism 2018; (9(9)):271-282 doi:10.1177/2042018818776167.

    PMID: 30181854
  17. 17

    Comprehensive genetic screening: The prevalence of maturity-onset diabetes of the young gene variants in a population-based childhood diabetes cohort.

    Johnson SR, Ellis JJ, Leo PJ, et al.

    Pediatric diabetes 2019; (20(1)):57-64 doi:10.1111/pedi.12766.

    PMID: 30191644
  18. 18

    A UK nationwide prospective study of treatment change in MODY: genetic subtype and clinical characteristics predict optimal glycaemic control after discontinuing insulin and metformin.

    Shepherd MH, Shields BM, Hudson M, et al.

    Diabetologia 2018; (61(12)):2520-2527 doi:10.1007/s00125-018-4728-6.

    PMID: 30229274
  19. 19

    In silico and in vitro analyses of the pathological relevance of the R258H mutation of hepatocyte nuclear factor 4α identified in maturity-onset diabetes of the young type 1.

    Sugawara K, Nomura K, Okada Y, et al.

    Journal of diabetes investigation 2019; (10(3)):680-684 doi:10.1111/jdi.12960.

    PMID: 30325586
  20. 20

    Autoantibodies against ZnT8 are rare in Central-European LADA patients and absent in MODY patients, including those positive for other autoantibodies.

    Heneberg P, Šimčíková D, Čecháková M, et al.

    Journal of diabetes and its complications 2019; (33(1)):46-52 doi:10.1016/j.jdiacomp.2018.10.004.

    PMID: 30377089
  21. 21

    Zinc Transporter 8 Autoantibodies (ZnT8A) and a Type 1 Diabetes Genetic Risk Score Can Exclude Individuals With Type 1 Diabetes From Inappropriate Genetic Testing for Monogenic Diabetes.

    Patel KA, Weedon MN, Shields BM, et al.

    Diabetes care 2019; (42(2)):e16-e17 doi:10.2337/dc18-0373.

    PMID: 30409810
  22. 22

    Targeted next generation sequencing in patients with maturity-onset diabetes of the young (MODY).

    Özdemir TR, Kırbıyık Ö, Dündar BN, et al.

    Journal of pediatric endocrinology & metabolism : JPEM 2018; (31(12)):1295-1304.

    PMID: 30447144
  23. 23

    Frequency and Characteristics of MODY 1 (HNF4A Mutation) and MODY 5 (HNF1B Mutation): Analysis From the DPV Database.

    Warncke K, Kummer S, Raile K, et al.

    The Journal of clinical endocrinology and metabolism 2019; (104(3)):845-855 doi:10.1210/jc.2018-01696.

    PMID: 30535056
  24. 24

    Identification and functional analysis of GCK gene mutations in 12 Chinese families with hyperglycemia.

    Wang Z, Diao C, Liu Y, et al.

    Journal of diabetes investigation 2019; (10(4)):963-971 doi:10.1111/jdi.13001.

    PMID: 30592380
  25. 25

    A rare case of congenital hyperinsulinism (CHI) due to dual genetic aetiology involving HNF4A and ABCC8.

    Apperley L, Giri D, Houghton JAL, et al.

    Journal of pediatric endocrinology & metabolism : JPEM 2019; (32(3)):301-304 doi:10.1515/jpem-2018-0389.

    PMID: 30730840
  26. 26

    Liver adenomatosis in patients with hepatocyte nuclear factor-1 alpha maturity onset diabetes of the young (HNF1A-MODY): Clinical, radiological and pathological characteristics in a French series.

    Haddouche A, Bellanne-Chantelot C, Rod A, et al.

    Journal of diabetes 2020; (12(1)):48-57 doi:10.1111/1753-0407.12959.

    PMID: 31166087
  27. 27

    Diagnosis and management of glucokinase monogenic diabetes in pregnancy: current perspectives.

    Rudland VL

    Diabetes, metabolic syndrome and obesity : targets and therapy 2019; (12()):1081-1089 doi:10.2147/DMSO.S186610.

    PMID: 31372018
  28. 28

    How Recent Advances in Genomics Improve Precision Diagnosis and Personalized Care of Maturity-Onset Diabetes of the Young.

    Vaxillaire M, Froguel P, Bonnefond A

    Current diabetes reports 2019; (19(9)):79 doi:10.1007/s11892-019-1202-x.

    PMID: 31385057
  29. 29

    Novel insights into genetics and clinics of the HNF1A-MODY.

    Valkovicova T, Skopkova M, Stanik J, Gasperikova D

    Endocrine regulations 2019; (53(2)):110-134.

    PMID: 31517624
  30. 30

    Heterozygous lys169Glu mutation of glucokinase gene in a Chinese family having glucokinase-maturity-onset diabetes of the young (GCK-MODY).

    Zhou W, Chen M, Zhou H, Zhang Z

    Journal of postgraduate medicine 2019; (65(4)):241-243 doi:10.4103/jpgm.JPGM_166_19.

    PMID: 31571622
  31. 31

    Next generation sequencing targeted gene panel in Greek MODY patients increases diagnostic accuracy.

    Tatsi EB, Kanaka-Gantenbein C, Scorilas A, et al.

    Pediatric diabetes 2020; (21(1)):28-39 doi:10.1111/pedi.12931.

    PMID: 31604004
  32. 32

    Absence of Islet Autoantibodies and Modestly Raised Glucose Values at Diabetes Diagnosis Should Lead to Testing for MODY: Lessons From a 5-Year Pediatric Swedish National Cohort Study.

    Carlsson A, Shepherd M, Ellard S, et al.

    Diabetes care 2020; (43(1)):82-89 doi:10.2337/dc19-0747.

    PMID: 31704690
  33. 33

    Maturity-onset diabetes of the young: From a molecular basis perspective toward the clinical phenotype and proper management.

    Oliveira SC, Neves JS, Pérez A, Carvalho D

    Endocrinologia, diabetes y nutricion 2020; (67(2)):137-147 doi:10.1016/j.endinu.2019.07.012.

    PMID: 31718996
  34. 34

    Optimal Glycemic Control in a Patient With HNF1A MODY With GLP-1 RA Monotherapy: Implications for Future Therapy.

    Fantasia KL, Steenkamp DW

    Journal of the Endocrine Society 2019; (3(12)):2286-2289 doi:10.1210/js.2019-00278.

    PMID: 31737858
  35. 35

    Patient perspectives on the diagnostic journey to a monogenic diabetes diagnosis: Barriers and facilitators.

    Guan Y, Maloney KA, Pollin TI

    Journal of genetic counseling 2020; (29(6)):1106-1113 doi:10.1002/jgc4.1247.

    PMID: 32162750
  36. 36

    Genotype-Phenotype Characteristics of Turkish Children With Glucokinase Mutations Associated Maturity-Onset Diabetes of the Young.

    Bolu S, Eroz R, Dogan M, et al.

    Indian pediatrics 2020; (57(11)):1037-1039.

    PMID: 32533685
  37. 37

    Treatment Options for MODY Patients: A Systematic Review of Literature.

    Delvecchio M, Pastore C, Giordano P

    Diabetes therapy : research, treatment and education of diabetes and related disorders 2020; (11(8)):1667-1685 doi:10.1007/s13300-020-00864-4.

    PMID: 32583173
  38. 38

    Quality of Life and Treatment Satisfaction in Participants with Maturity-Onset Diabetes of the Young: A Comparison to Other Major Forms of Diabetes.

    Dusatkova P, Pavlikova M, Spirkova A, et al.

    Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association 2022; (130(2)):85-93 doi:10.1055/a-1200-1482.

    PMID: 32722819
  39. 39

    Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review.

    Mateus JC, Rivera C, O'Meara M, et al.

    Clinical diabetes and endocrinology 2020; (6()):16 doi:10.1186/s40842-020-00103-6.

    PMID: 32864159
  40. 40

    Clinical implications of the glucokinase impaired function - GCK MODY today.

    Hulín J, Škopková M, Valkovičová T, et al.

    Physiological research 2020; (69(6)):995-1011 doi:10.33549/physiolres.934487.

    PMID: 33129248
  41. 41

    Diagnosis of hepatic nuclear factor 1A monogenic diabetes mellitus (HNF1A-MODY) impacts antihyperglycemic treatment.

    Schnedl WJ, Holasek SJ, Schenk M, et al.

    Wiener klinische Wochenschrift 2021; (133(5-6)):241-244 doi:10.1007/s00508-020-01770-2.

    PMID: 33245425
  42. 42

    Localized increases in CEPT1 and ATGL elevate plasmalogen phosphatidylcholines in HDLs contributing to atheroprotective lipid profiles in hyperglycemic GCK-MODY.

    Wang X, Lam SM, Cao M, et al.

    Redox biology 2021; (40()):101855 doi:10.1016/j.redox.2021.101855.

    PMID: 33450726
  43. 43

    Insights into the etiology and physiopathology of MODY5/HNF1B pancreatic phenotype with a mouse model of the human disease.

    Quilichini E, Fabre M, Nord C, et al.

    The Journal of pathology 2021; (254(1)):31-45 doi:10.1002/path.5629.

    PMID: 33527355
  44. 44

    Monogenic diabetes: a gateway to precision medicine in diabetes.

    Zhang H, Colclough K, Gloyn AL, Pollin TI

    The Journal of clinical investigation 2021; (131(3)).

    PMID: 33529164
  45. 45

    Treatment implications of a delayed diagnosis of maturity-onset diabetes of the young.

    Ali AS, Brown F, Ekinci EI

    Internal medicine journal 2021; (51(1)):116-120 doi:10.1111/imj.15157.

    PMID: 33572031
  46. 46

    Frequency and characterization of mutations in genes in a large cohort of patients referred to MODY registry.

    Breidbart E, Deng L, Lanzano P, et al.

    Journal of pediatric endocrinology & metabolism : JPEM 2021; (34(5)):633-638 doi:10.1515/jpem-2020-0501.

    PMID: 33852230
  47. 47

    A Clinical Prediction Model to Distinguish Maturity-Onset Diabetes of the Young From Type 1 and Type 2 Diabetes in the Chinese Population.

    Fu J, Ping F, Wang T, et al.

    Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2021; (27(8)):776-782 doi:10.1016/j.eprac.2021.05.002.

    PMID: 33991656
  48. 48

    Decreased GLUT2 and glucose uptake contribute to insulin secretion defects in MODY3/HNF1A hiPSC-derived mutant β cells.

    Low BSJ, Lim CS, Ding SSL, et al.

    Nature communications 2021; (12(1)):3133 doi:10.1038/s41467-021-22843-4.

    PMID: 34035238
  49. 49

    NGS Analysis Revealed Digenic Heterozygous GCK and HNF1A Variants in a Child with Mild Hyperglycemia: A Case Report.

    Iafusco F, Maione G, Mazzaccara C, et al.

    Diagnostics (Basel, Switzerland) 2021; (11(7)) doi:10.3390/diagnostics11071164.

    PMID: 34202200
  50. 50

    Molecular Diagnosis of Monogenic Diabetes and Their Clinical/Laboratory Features in Turkish Children

    Gökşen D, Yeşilkaya E, Özen S, et al.

    Journal of clinical research in pediatric endocrinology 2021; (13(4)):433-438 doi:10.4274/jcrpe.galenos.2021.2021.0056.

    PMID: 34250910
  51. 51

    Monogenic diabetes caused by GCK gene mutation is misdiagnosed as gestational diabetes - A multicenter study in Portugal.

    Lima Ferreira J, Voss G, Sá Couto A, Príncipe RM

    Diabetes & metabolic syndrome 2021; (15(5)):102259 doi:10.1016/j.dsx.2021.102259.

    PMID: 34438359
  52. 52

    C-peptide and residual β-cell function in pediatric diabetes - state of the art.

    Jamiołkowska-Sztabkowska M, Głowińska-Olszewska B, Bossowski A

    Pediatric endocrinology, diabetes, and metabolism 2021; (27(2)):123-133 doi:10.5114/pedm.2021.107165.

    PMID: 34514768
  53. 53

    Glucokinase-maturity onset diabetes mellitus in the young suggested by factory-calibrated glucose monitoring data: a case report.

    Nomura N, Iizuka K, Goshima E, et al.

    Endocrine journal 2022; (69(4)):473-477 doi:10.1507/endocrj.EJ21-0526.

    PMID: 34803122
  54. 54

    The use of SGLT2 inhibitors in achieving glycaemic control in maturity-onset diabetes of the young type 3.

    Sriravindrarajah A, Fernandes A, Wu T, Hocking S

    Endocrinology, diabetes & metabolism case reports 2021; (2021()).

    PMID: 34866061
  55. 55

    Pregnancy in Women With Monogenic Diabetes due to Pathogenic Variants of the Glucokinase Gene: Lessons and Challenges.

    Timsit J, Ciangura C, Dubois-Laforgue D, et al.

    Frontiers in endocrinology 2021; (12()):802423 doi:10.3389/fendo.2021.802423.

    PMID: 35069449
  56. 56

    A novel HNF4A mutation identified in a child with maturity onset diabetes of the young.

    Zhu MQ, Dai YL, Chen XF, et al.

    World journal of pediatrics : WJP 2022; (18(11)):778-780 doi:10.1007/s12519-022-00512-w.

    PMID: 35118593
  57. 57

    Maturity-Onset Diabetes of the Young: Rapid Evidence Review.

    Kant R, Davis A, Verma V

    American family physician 2022; (105(2)):162-167.

    PMID: 35166506
  58. 58

    Novel HNF1A gene mutation in maturity-onset diabetes of the young: A case report.

    Xu Q, Kan CX, Hou NN, Sun XD

    World journal of clinical cases 2022; (10(6)):1909-1913 doi:10.12998/wjcc.v10.i6.1909.

    PMID: 35317157
  59. 59

    Unusual manifestations of young woman with MODY5 based on 17q12 recurrent deletion syndrome.

    Cheng Y, Zhong DP, Ren L, et al.

    BMC endocrine disorders 2022; (22(1)):77 doi:10.1186/s12902-022-00989-6.

    PMID: 35346144
  60. 60

    Clinical and genetic characterization and long-term evaluation of individuals with maturity-onset diabetes of the young (MODY): The journey towards appropriate treatment.

    Campos Franco P, Santos de Santana L, Dantas Costa-Riquetto A, et al.

    Diabetes research and clinical practice 2022; (187()):109875 doi:10.1016/j.diabres.2022.109875.

    PMID: 35472491
  61. 61

    Reverse Phenotyping Maternal Cystic Kidney Disease by Diagnosis in a Newborn: Case Report and Literature Review on Neonatal Cystic Kidney Diseases.

    Ruzgienė D, Sutkevičiūtė M, Burnytė B, et al.

    Acta medica Lituanic 2021; (28(2)):308-316 doi:10.15388/Amed.2021.28.2.5.

    PMID: 35474932
  62. 62

    Mutations in GCK May Lead to MODY2 by Reducing Glycogen Synthesis.

    Li Z, Li K, Sun Y, et al.

    Advanced biology 2022; (6(11)):e2200097 doi:10.1002/adbi.202200097.

    PMID: 35770790
  63. 63

    The Clinical Characteristics and Gene Mutations of Maturity-Onset Diabetes of the Young Type 5 in Sixty-One Patients.

    Ge S, Yang M, Cui Y, et al.

    Frontiers in endocrinology 2022; (13()):911526 doi:10.3389/fendo.2022.911526.

    PMID: 35846334
  64. 64

    Reduced calcium levels and accumulation of abnormal insulin granules in stem cell models of HNF1A deficiency.

    González BJ, Zhao H, Niu J, et al.

    Communications biology 2022; (5(1)):779 doi:10.1038/s42003-022-03696-z.

    PMID: 35918471
  65. 65

    Case Report: A case of HNF1B mutation patient with first presentation of diabetic ketosis.

    Ge S, Yang M, Gong W, et al.

    Frontiers in endocrinology 2022; (13()):917819 doi:10.3389/fendo.2022.917819.

    PMID: 35992134
  66. 66

    Dorzagliatin, a Dual-Acting Glucokinase Activator, Increases Insulin Secretion and Glucose Sensitivity in Glucokinase Maturity-Onset Diabetes of the Young and Recent-Onset Type 2 Diabetes.

    Chow E, Wang K, Lim CKP, et al.

    Diabetes 2023; (72(2)):299-308 doi:10.2337/db22-0708.

    PMID: 36342518
  67. 67

    GCK-MODY in pregnancy: A pregnant woman with diabetes and a small-for-gestational-age fetus.

    Yau TTL, Yu SCY, Cheng JY, et al.

    Clinical case reports 2022; (10(12)):e6629 doi:10.1002/ccr3.6629.

    PMID: 36483860
  68. 68

    A Case of Diabetes Mellitus Type MODY5 as a Feature of 17q12 Deletion Syndrome

    Yaşar Köstek H, Özgüç Çömlek F, Gürkan H, et al.

    Journal of clinical research in pediatric endocrinology 2024; (16(2)):205-210 doi:10.4274/jcrpe.galenos.2022.2022-3-2.

    PMID: 36511482
  69. 69

    A clinical mutation in glucokinase causing maturity-onset diabetes in the young type 2 increases enzyme activity.

    Aránguiz O, Rivera R, Durruty P, et al.

    FEBS letters 2023; (597(11)):1469-1478 doi:10.1002/1873-3468.14561.

    PMID: 36520489
  70. 70

    C.487C>T mutation in PAX4 gene causes MODY9: A case report and literature review.

    Zhang D, Chen C, Yang W, et al.

    Medicine 2022; (101(51)):e32461 doi:10.1097/MD.0000000000032461.

    PMID: 36595822
  71. 71

    Diagnosis, treatment and disclosure: A qualitative exploration of participant challenges in a Monogenic Diabetes Registry.

    Noohi F, Sundaresan MS, Naylor RN, Ross LF

    Genetics in medicine : official journal of the American College of Medical Genetics 2023; (25(4)):100019 doi:10.1016/j.gim.2023.100019.

    PMID: 36681871
  72. 72

    Maturity-onset Diabetes of the Young Type 7 (MODY7) and the Krüppellike Factor 11 Mutation (KLF11). A Review.

    Mancera-Rincón P, Luna-España MC, Rincon O, et al.

    Current diabetes reviews 2024; (20(1)):e210323214817 doi:10.2174/1573399819666230321114456.

    PMID: 36944622
  73. 73

    Bringing precision medicine to the management of pregnancy in women with glucokinase-MODY: a study of diagnostic accuracy and feasibility of non-invasive prenatal testing.

    Hughes AE, Houghton JAL, Bunce B, et al.

    Diabetologia 2023; (66(11)):1997-2006 doi:10.1007/s00125-023-05982-9.

    PMID: 37653058
  74. 74

    Two novel GCK mutations in Chinese patients with maturity-onset diabetes of the young.

    Wang T, Zhu M, Wang Y, et al.

    Endocrine 2024; (83(1)):92-98 doi:10.1007/s12020-023-03509-1.

    PMID: 37847371
  75. 75

    Glucokinase Variant Proteins Are Resistant to Fasting-Induced Uridine Diphosphate Glucose-Dependent Degradation in Maturity-Onset Diabetes of the Young Type 2 Patients.

    Cho J, Horikawa Y, Oiwa Y, et al.

    International journal of molecular sciences 2023; (24(21)) doi:10.3390/ijms242115842.

    PMID: 37958824
  76. 76

    Generation and characterization of an induced pluripotent stem cell (iPSC) line SDQLCHi063-A from peripheral blood mononuclear cells of a patient with Maturity-onset diabetes of the young type 2 carrying GCK exon 1 deletion.

    Gao M, Li X, Lv Y, et al.

    Stem cell research 2024; (77()):103389 doi:10.1016/j.scr.2024.103389.

    PMID: 38507882
  77. 77

    Challenges in the management of patients with HNF1B MODY and multisystem manifestations: the cases of two adolescent boys.

    Vourdoumpa A, Paltoglou G, Mertzanian A, et al.

    Hormones (Athens, Greece) 2024; (23(3)):439-445 doi:10.1007/s42000-024-00580-9.

    PMID: 38980656
  78. 78

    Low C-Reactive Protein Alleles in Hepatocyte Nuclear Factor 1A Are Associated With an Increased Risk of Cardiovascular Disease.

    Yang C, Ji L, Han X

    The Journal of clinical endocrinology and metabolism 2025; (110(2)):592-600 doi:10.1210/clinem/dgae602.

    PMID: 39210612
  79. 79

    A novel nonsense mutation c.747C>G in the NEUROD1 gene detected within a Chinese family affected by maturity-onset diabetes of the young type 6.

    Li Y, Wen Q, Shao H, et al.

    Journal of diabetes 2024; (16(9)):e13607 doi:10.1111/1753-0407.13607.

    PMID: 39264012
  80. 80

    Clinical screening for GCK-MODY in 2,989 patients from the Brazilian Monogenic Diabetes Study Group (BRASMOD) and the Brazilian Type 1 Diabetes Study Group (BrazDiab1SG).

    Peixoto-Barbosa R, Calliari LE, Crispim F, et al.

    Archives of endocrinology and metabolism 2024; (68()):e230314 doi:10.20945/2359-4292-2023-0314.

    PMID: 39420902
  81. 81

    Investigating misclassification of type 1 diabetes in a population-based cohort of British Pakistanis and Bangladeshis using polygenic risk scores.

    Liu T, Sankareswaran A, Paterson G, et al.

    Scientific reports 2025; (15(1)):1168 doi:10.1038/s41598-024-80348-8.

    PMID: 39805939
  82. 82

    Efficacy and safety of SGLT2 inhibitors in the treatment of maturity-onset diabetes of the young (MODY): a case report and literature review.

    Bombonato M, Beccuti G, Benso A, et al.

    Hormones (Athens, Greece) 2025; (24(2)):495-498 doi:10.1007/s42000-025-00632-8.

    PMID: 39903441
  83. 83

    Effect of SGLT2 Inhibition on Glucosuria During a Hyperglycemic Clamp in HNF1A-MODY (MODY3) and Type 2 Diabetes.

    Maagensen H, Jensen JS, Høyerup SO, et al.

    Diabetes care 2025; (48(9)):1536-1544 doi:10.2337/dc25-0737.

    PMID: 40608360
  84. 84

    Pregnancy and Neonatal Outcomes in Maturity-Onset Diabetes of the Young: A Systematic Review.

    Ługowski F, Babińska J, Makowska K, et al.

    International journal of molecular sciences 2025; (26(13)) doi:10.3390/ijms26136057.

    PMID: 40649834
  85. 85

    Additive Effects of Dorzagliatin and Glucagon-Like Peptide 1 Receptor Agonism in a Novel Mouse Model of GCK-MODY and in Obese db/db Mice.

    Salazar S, Delgadillo-Silva LF, Carapeto P, et al.

    Diabetes 2026; (75(1)):99-114 doi:10.2337/db25-0520.

    PMID: 41196662
  86. 86

    PDX-1 related diabetes: a case series of two families highlighting challenges in MODY diagnosis.

    da Silva BT, Pinheiro AT, Saraiva M, et al.

    Acta diabetologica 2026; (63(2)):201-208 doi:10.1007/s00592-025-02614-z.

    PMID: 41201616
  87. 87

    Clinical and cost-effectiveness of non-invasive cell-free DNA testing to optimise foetal outcomes for women with monogenic diabetes due to inactivating glucokinase gene mutations: a case series.

    Jones AS, Kevat D, Lee IL, et al.

    Internal medicine journal 2025; (55(12)):2059-2064 doi:10.1111/imj.70262.

    PMID: 41263552
  88. 88

    Why all MODY variants in transcription factor genes are dominantly inherited.

    Zug R

    Frontiers in genetics 2025; (16()):1690468 doi:10.3389/fgene.2025.1690468.

    PMID: 41356216
  89. 89

    Gliclazide Challenge Testing as an Alternative Diagnostic Tool for Hepatocyte Nuclear Factor-1-Alpha Maturity Onset Diabetes of the Young.

    Pandya S, Khairati R, Mann J, et al.

    European journal of case reports in internal medicine 2025; (12(12)):005892 doi:10.12890/2025_005892.

    PMID: 41377795
  90. 90

    HLA-guided identification of monogenic diabetes in antibody-negative type 1 diabetes: frequency and characteristics.

    Chen Y, Yin M, Xie Y, et al.

    Diabetes & metabolism 2026; (52(2)):101741 doi:10.1016/j.diabet.2026.101741.

    PMID: 41679598
  91. 91

    Low prevalence of GCK gene mutations in Chinese patients with gestational diabetes mellitus.

    Wang Z, Huo L, Lan L, et al.

    Clinics (Sao Paulo, Brazil) 2026; (81()):100889 doi:10.1016/j.clinsp.2026.100889.

    PMID: 41747674
  92. 92

    Case Report: Identification of a HNF1A exons 1-10 heterozygous deletion in a Chinese MODY family.

    Lei M, Xue M, Wang H, et al.

    Frontiers in endocrinology 2026; (17()):1743021 doi:10.3389/fendo.2026.1743021.

    PMID: 41778156