Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis

Proceedings of the National Academy of Sciences of the United States of America

Volumn 107, Issue 7, 2010, Pages 3105-3110

  Garin, Intza ^a,b   Edghill, Emma L ^c   Akerman, Ildem ^b,d,e   Rubio Cabezas, Oscar ^c,f   Rica, Itxaso ^a   Locke, Jonathan M ^c   Maestro, Miguel Angel ^b,d,e   Alshaikh, Adnan ^g   Bundak, Ruveyde ^h   Del Castillo, Gabriel ⁱ   Deeb, Asma ^j   Deiss, Dorothee ^k   Fernandez, Juan M ^l   Godbole, Koumudi ^m   Hussain, Khalid ⁿ   O'Connell, Michele ^o   Klupa, Thomasz ^p   Kolouskova, Stanislava ^q   Mohsin, Fauzia ^r   Perlman, Kusiel ^s   Sumnik, Zdenek ^q   Rial, Jose M ^t   Ugarte, Estibaliz ^u   Vasanthi, Thiruvengadam ^v   Johnstone, Karen ^c   Flanagan, Sarah E ^c   Martínez, Rosa ^a,b   Castaño, Carlos ^b,d,e   Patch, Ann Marie ^c   Fernández Rebollo, Eduardo ^a,b   Raile, Klemens ^k   Morgan, Noel ^c   Harries, Lorna W ^c   Castaño, Luis ^a,b   Ellard, Sian ^c   Ferrer, Jorge ^b,d,e   De Nanclares, Guiomar Perez ^a,b   Hattersley, Andrew T ^c   Bas, Firdevs ^h   Cinek, Ondrej ^w   Malecki, Maciek ^p   Rachmiel, Marianna ^s   more..

^a HOSPITAL DE CRUCES   (Spain)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

^c UNIVERSITY OF EXETER   (United Kingdom)

^d HOSPITAL CLÍNIC   (Spain)

^e INSTITUT D INVESTIGACIONS BIOMÈDIQUES AUGUST PI I SUNYER IDIBAPS   (Spain)

^f HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

^g KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

^h ISTANBUL UNIVERSITY   (Turkey)

ⁱ Hospital Infantil Los Angeles   (Colombia)

^j IMPERIAL COLLEGE LONDON   (United Kingdom)

^k CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^l HOSPITAL UNIVERSITARIO SAN CECILIO   (Spain)

^m Deenanath Mangehskar Hospital and Research Center   (India)

ⁿ GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^o ROYAL CHILDREN'S HOSPITAL   (Australia)

^p JAGIELLONIAN UNIVERSITY MEDICAL COLLEGE   (Poland)

^q CHARLES UNIVERSITY   (Czech Republic)

^r Bangladesh Institute of Research and Rehabilitation in Diabetes Endocrine and Metabolic Disorders   (Bangladesh)

^s HOSPITAL FOR SICK CHILDREN   (Canada)

^t HOSPITAL UNIVERSITARIO NUESTRA SEÑORA DE CANDELARIA   (Spain)

^u HOSPITAL DE BASURTO   (Spain)

^v KANCHI KAMAKOTI CHILDS TRUST HOSPITAL   (India)

^w UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

more..

Author keywords

Gene expression regulation; Gene regulation; Genetic testing; Promoter regions; RNA instability

Indexed keywords

CIS ACTING ELEMENT; DINUCLEOTIDE; MESSENGER RNA; PREPROINSULIN;

3' UNTRANSLATED REGION; ARTICLE; BASE PAIRING; BIRTH WEIGHT; CHILD; CONTROLLED STUDY; DIABETES MELLITUS; DOMINANT GENE; FEMALE; GENE DELETION; GENE MUTATION; GENETIC TRANSCRIPTION; HUMAN; INFANT; INSULIN SYNTHESIS; MAJOR CLINICAL STUDY; MALE; NEWBORN DISEASE; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYADENYLATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; RECESSIVE GENE; REGULATORY SEQUENCE; RNA STABILITY; TRANSLATION INITIATION;

DIABETES MELLITUS; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; GENE DOSAGE; GENES, RECESSIVE; HUMANS; INFANT, NEWBORN; INSULIN; MALE; MUTATION; OLIGONUCLEOTIDE PROBES; PROTEIN PRECURSORS;

EID: 77649262569     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.0910533107     Document Type: Article

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