A novel glucokinase deletion (p.Lys32del) and five previously described mutations co-segregate with the phenotype of mild familial hyperglycaemia (MODY2) in Brazilian families

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art_MANNA_A_novel_glucokinase_deletion_(p_Lys32del)_and_five_2013.PDF (299.75 KB)
Citações na Scopus
8
Tipo de produção
article
Data de publicação
2013
DOI
Scopus
Web of Science
PubMed
Título da Revista
ISSN da Revista
Título do Volume
Editora
ELSEVIER IRELAND LTD
Autores
GIUFFRIDA, Fernando M. A.
CALLIARI, Luis Eduardo
FERREIRA, Joao Guimaraes
SADDI-ROSA, Pedro
KUNII, Ilda S.
FURUZAWA, Gilberto K.
DIAS-DA-SILVA, Magnus R.
REIS, Andre F.
Citação
DIABETES RESEARCH AND CLINICAL PRACTICE, v.100, n.2, p.E42-E45, 2013
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
Six Brazilian families with mild familial hyperglycaemia have been screened for glucokinase (GCK) mutations. All had mutations that co-segregated with the phenotype. One of the mutations, the deletion 96_98delAAG (p.Lys32del), had not been previously described, reinforcing the worldwide prevalence of GCK MODY and widespread existence of undetected new mutations.
Palavras-chave
MODY, Glucokinase, Monogenic diabetes
URI
https://observatorio.fm.usp.br/handle/OPI/2335
Referências
  1. Costa A, 2000, EUR J ENDOCRINOL, V142, P380, DOI 10.1530/eje.0.1420380
  2. DellaManna T, 2012, ARQ BRAS ENDOCRINOL, V56, P490, DOI 10.1590/S0004-27302012000800005
  3. Ellard S, 2008, DIABETOLOGIA, V51, P546, DOI 10.1007/s00125-008-0942-y
  4. Estalella I, 2007, CLIN ENDOCRINOL, V67, P538, DOI 10.1111/j.1365-2265.2007.02921.x
  5. Feigerlova E, 2006, EUR J PEDIATR, V165, P446, DOI 10.1007/s00431-006-0106-3
  6. Frayling TM, 1997, DIABETES, V46, P720, DOI 10.2337/diabetes.46.4.720
  7. Furuzawa Gilberto K, 2008, Diabetes Res Clin Pract, V81, pe12, DOI 10.1016/j.diabres.2008.06.011
  8. Giuffrida FMA, 2005, DIABETES OBES METAB, V7, P318, DOI 10.1111/j.1463-1326.2004.00399.x
  9. HAGER J, 1994, DIABETES, V43, P730, DOI 10.2337/diabetes.43.5.730
  10. Mantovani Vilma, 2003, Hum Mutat, V22, P338, DOI 10.1002/humu.9179
  11. Maraschin JD, 2008, ARQ BRAS ENDOCRINOL, V52, P1326, DOI 10.1590/S0004-27302008000800020
  12. Massa O, 2001, DIABETOLOGIA, V44, P898
  13. Miller SP, 1999, DIABETES, V48, P1645, DOI 10.2337/diabetes.48.8.1645
  14. Moises RS, 2001, DIABETES CARE, V24, P786, DOI 10.2337/diacare.24.4.786
  15. Osbak KK, 2009, HUM MUTAT, V30, P1512, DOI 10.1002/humu.21110
  16. Pruhova S, 2003, DIABETOLOGIA, V46, P291, DOI 10.1007/s00125-002-1010-7
  17. Thomson K L, 2003, Hum Mutat, V22, P417, DOI 10.1002/humu.9186
  18. Vits L, 2006, CLIN GENET, V70, P355, DOI 10.1111/j.1399-0004.2006.00686.x

Coleções
Artigos e Materiais de Revistas Científicas - HC/ICr
Artigos e Materiais de Revistas Científicas - LIM/36
Artigos e Materiais de Revistas Científicas - ODS/03