Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability

Human Molecular Genetics

Volumn 23, Issue 24, 2014, Pages 6432-6440

  Raimondo, Anne ^a   Chakera, Ali J ^b,c   Thomsen, Soren K ^a   Colclough, Kevin ^c   Barrett, Amy ^a   De Franco, Elisa ^b   Chatelas, Alisson ^a   Demirbilek, Huseyin ^d   Akcay, Teoman ^e   Alawneh, Hussein ^f   Flanagan, Sarah E ^b   Van De Bunt, Martijn ^a   Hattersley, Andrew T ^b,c   Gloyn, Anna L ^a,g   Ellard, Sian ^b,c   Abduljabbar, Mohammad A ^h   Al Zyoud, Mahmoud ⁱ   Aman, Syed ^j   Bath, Louise ^k   De, Parijat ^l   Deshpande, Neeta ^j   Durmaz, Erdem ^m   Eickmeier, Frank ⁿ   Elbarbary, Nancy Samir ^o   Fillion, Marc ^p   Jagadeesh, Sujatha M ^q   Kershaw, Melanie ^r   Khan, Waqas I ^s   Mlynarski, Wojciech ^t   Noyes, Kathryn ^k   Peters, Catherine J ^u   Shaw, Nick ^v   Tiron, Irina ^w   Turkkahraman, Doga ^m   Turner, Lesley ^x   Eltonbary, Khadiga Y ^y   Yuksel, Bilgin ^z   more..

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF EXETER MEDICAL SCHOOL   (United Kingdom)

^c ROYAL DEVON AND EXETER NHS FOUNDATION TRUST   (United Kingdom)

^d Diyarbakir Devlet Hastanesi   (Turkey)

^e Bak rköy Dr Sadi Konuk Education and Reseach Hospital Obstetrics and Gynecology   (Turkey)

^f KING HUSSEIN MEDICAL CENTER   (Jordan)

^g CHURCHILL HOSPITAL   (United Kingdom)

^h DHAHRAN HEALTH CENTER   (Saudi Arabia)

ⁱ HAMAD MEDICAL CORPORATION   (Qatar)

^j Belgaum Diabetes Centre   (India)

^k ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^l CITY HOSPITAL   (United Kingdom)

^m AKDENIZ UNIVERSITY   (Turkey)

ⁿ Klinikum Pforzheim GmbH   (Germany)

^o AIN SHAMS UNIVERSITY   (Egypt)

^p LAVAL UNIVERSITY   (Canada)

^q MediScan Systems Chennai   (India)

^r GEORGE ELIOT HOSPITAL   (United Kingdom)

^s The Children's Hospital and Institute of Child Health   (Pakistan)

^t MEDICAL UNIVERSITY OF LODZ   (Poland)

^u GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^v BIRMINGHAM CHILDREN S HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^w BIRMINGHAM HEARTLANDS HOSPITAL   (United Kingdom)

^x James Paton Memorial Hospital   (Canada)

^y AIN SHAMS UNIVERSITY   (Egypt)

^z CUKUROVA UNIVERSITY   (Turkey)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOKINASE; RECOMBINANT PROTEIN;

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE SEVERITY ASSESSMENT; ENZYME KINETICS; GENE MUTATION; HOMOZYGOSITY; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; MISSENSE MUTATION; NEWBORN; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN STABILITY; THERMOSTABILITY; BIRTH WEIGHT; DIABETES MELLITUS; ENZYME ASSAY; ENZYME STABILITY; ENZYMOLOGY; FEMALE; GENETICS; GENOTYPE; HEAT; HOMOZYGOTE; INFANT; KINETICS; MALE; METABOLISM; PATHOLOGY; PRESCHOOL CHILD; SEVERITY OF ILLNESS INDEX;

AGE OF ONSET; BIRTH WEIGHT; CHILD; CHILD, PRESCHOOL; DIABETES MELLITUS; ENZYME ASSAYS; ENZYME STABILITY; FEMALE; GENOTYPE; GLUCOKINASE; HOMOZYGOTE; HOT TEMPERATURE; HUMANS; INFANT; INFANT, NEWBORN; KINETICS; MALE; MUTATION, MISSENSE; PHENOTYPE; RECOMBINANT PROTEINS; SEVERITY OF ILLNESS INDEX;

EID: 84940465657     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddu360     Document Type: Article

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