Literature DB >> 11942315

Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes.

A L Gloyn, S Ellard, J P Shield, I K Temple, D J G Mackay, M Polak, T Barrett, A T Hattersley.   

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Year:  2002        PMID： 11942315     DOI： 10.1007/s00125-001-0746-9

Source DB:  PubMed          Journal:  Diabetologia        ISSN： 0012-186X            Impact factor:   10.122


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  7 in total

1.  EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome.

Authors:  M Delépine; M Nicolino; T Barrett; M Golamaully; G M Lathrop; C Julier
Journal:  Nat Genet       Date:  2000-08       Impact factor: 38.330

2.  Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes.

Authors:  I K Temple; R J Gardner; D J Mackay; J C Barber; D O Robinson; J P Shield
Journal:  Diabetes       Date:  2000-08       Impact factor: 9.461

3.  A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria.

Authors:  S Ellard; F Beards; L I Allen; M Shepherd; E Ballantyne; R Harvey; A T Hattersley
Journal:  Diabetologia       Date:  2000-02       Impact factor: 10.122

4.  Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus.

Authors:  P Froguel; H Zouali; N Vionnet; G Velho; M Vaxillaire; F Sun; S Lesage; M Stoffel; J Takeda; P Passa
Journal:  N Engl J Med       Date:  1993-03-11       Impact factor: 91.245

Review 5.  Long-term course of neonatal diabetes.

Authors:  K E von Mühlendahl; H Herkenhoff
Journal:  N Engl J Med       Date:  1995-09-14       Impact factor: 91.245

6.  X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy.

Authors:  R S Wildin; F Ramsdell; J Peake; F Faravelli; J L Casanova; N Buist; E Levy-Lahad; M Mazzella; O Goulet; L Perroni; F D Bricarelli; G Byrne; M McEuen; S Proll; M Appleby; M E Brunkow
Journal:  Nat Genet       Date:  2001-01       Impact factor: 38.330

7.  Neonatal diabetes mellitus due to complete glucokinase deficiency.

Authors:  P R Njølstad; O Søvik; A Cuesta-Muñoz; L Bjørkhaug; O Massa; F Barbetti; D E Undlien; C Shiota; M A Magnuson; A Molven; F M Matschinsky; G I Bell
Journal:  N Engl J Med       Date:  2001-05-24       Impact factor: 91.245
  7 in total
  10 in total

Review 1.  New insights into the genetics of neonatal diabetes.

Authors:  Constantin Polychronakos
Journal:  Rev Endocr Metab Disord       Date:  2003-03       Impact factor: 6.514

Review 2.  ATP-sensitive potassium channelopathies: focus on insulin secretion.

Authors:  Frances M Ashcroft
Journal:  J Clin Invest       Date:  2005-08       Impact factor: 14.808

Review 3.  Mutations in pancreatic ß-cell Glucokinase as a cause of hyperinsulinaemic hypoglycaemia and neonatal diabetes mellitus.

Authors:  Khalid Hussain
Journal:  Rev Endocr Metab Disord       Date:  2010-09       Impact factor: 6.514

4.  Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome.

Authors:  J Mitchell; Z Punthakee; B Lo; C Bernard; K Chong; C Newman; L Cartier; V Desilets; E Cutz; I L Hansen; P Riley; C Polychronakos
Journal:  Diabetologia       Date:  2004-12-08       Impact factor: 10.122

Review 5.  Hyperinsulinism and diabetes: genetic dissection of beta cell metabolism-excitation coupling in mice.

Authors:  Maria Sara Remedi; Colin G Nichols
Journal:  Cell Metab       Date:  2009-12       Impact factor: 27.287

6.  Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations.

Authors:  Huseyin Demirbilek; Ved Bhushan Arya; Mehmet Nuri Ozbek; Jayne A L Houghton; Riza Taner Baran; Melek Akar; Selahattin Tekes; Heybet Tuzun; Deborah J Mackay; Sarah E Flanagan; Andrew T Hattersley; Sian Ellard; Khalid Hussain
Journal:  Eur J Endocrinol       Date:  2015-03-09       Impact factor: 6.664

7.  A family with novel homozygous deletion mutation (c.1255delT; p.Phe419Serfs*12) in the glucokinase gene, which is a rare cause of permanent neonatal diabetes mellitus.

Authors:  Semih Bolu; Recep Eröz; Mustafa Doğan; İlknur Arslanoğlu; Hakan Uzun; Furkan Timur
Journal:  Turk Pediatri Ars       Date:  2020-12-16

Review 8.  Clinical implications of the glucokinase impaired function - GCK MODY today.

Authors:  J Hulín; M Škopková; T Valkovičová; S Mikulajová; M Rosoľanková; P Papcun; D Gašperíková; J Staník
Journal:  Physiol Res       Date:  2020-11-02       Impact factor: 1.881

Review 9.  Neonatal diabetes mellitus: a disease linked to multiple mechanisms.

Authors:  Michel Polak; Hélène Cavé
Journal:  Orphanet J Rare Dis       Date:  2007-03-09       Impact factor: 4.123

10.  A new compound heterozygosis for inactivating mutations in the glucokinase gene as cause of permanent neonatal diabetes mellitus (PNDM) in double-first cousins.

Authors:  Adriana Mangue Esquiaveto-Aun; Maricilda Palandi De Mello; Maria Fernanda Vanti Macedo Paulino; Walter José Minicucci; Gil Guerra-Júnior; Sofia Helena Valente De Lemos-Marini
Journal:  Diabetol Metab Syndr       Date:  2015-11-18       Impact factor: 3.320
  10 in total

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