TRMT10A dysfunction is associated with abnormalities in glucose homeostasis, short stature and microcephaly

Journal of Medical Genetics

Volumn 51, Issue 9, 2014, Pages 573-580

  Gillis, David ^a   Krishnamohan, Aiswarya ^b   Yaacov, Barak ^a   Shaag, Avraham ^a   Jackman, Jane E ^b   Elpeleg, Orly ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b OHIO STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CARBOHYDRATE; DIAZOXIDE; FAT; GLUCOSE; GLYCINE; PROTEIN; S ADENOSYLMETHIONINE; METHYLTRANSFERASE; TRMT10A PROTEIN, HUMAN;

ADOLESCENT; ADULT; ANISOTROPY; ARTICLE; ARTIFICIAL MILK; BINDING AFFINITY; CARBOHYDRATE INTAKE; CASE REPORT; DELAYED PUBERTY; ENZYME ACTIVITY; ENZYME BINDING; FAMILY; FEMALE; FLUORESCENCE; FLUORESCENCE ANISOTROPY; GENE; GENE EXPRESSION; GENETIC ASSOCIATION; GENETIC PROCEDURES; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; GLUCOSE BLOOD LEVEL; GLUCOSE HOMEOSTASIS; HOMOZYGOTE; HUMAN; HYPERINSULINEMIA; HYPOGLYCEMIA; INTELLECTUAL IMPAIRMENT; LIPID DIET; MALE; METHYLATION; MICROCEPHALY; NONSENSE MUTATION; PROTEIN DIET; SEIZURE; SHORT STATURE; TRMT10A GENE; WHOLE EXOME SEQUENCING; WILD TYPE; YOUNG ADULT; DISORDERS OF CARBOHYDRATE METABOLISM; DNA SEQUENCE; EXOME; FLUORESCENCE POLARIZATION; GENETICS; JEW; MISSENSE MUTATION; MOLECULAR GENETICS; MULTIPLE MALFORMATION SYNDROME; NUCLEOTIDE SEQUENCE; UZBEKISTAN;

ABNORMALITIES, MULTIPLE; ADOLESCENT; BASE SEQUENCE; EXOME; FEMALE; FLUORESCENCE POLARIZATION; GLUCOSE METABOLISM DISORDERS; HUMANS; INTELLECTUAL DISABILITY; JEWS; MALE; METHYLTRANSFERASES; MICROCEPHALY; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; SEQUENCE ANALYSIS, DNA; UZBEKISTAN;

EID: 84907054437     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2014-102336     Document Type: Article

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