LARP7

Publications

Alazami AM et al. Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism. Hum Mutat. 2012;33(10):1429-1434.  PMID: 22865833.

Holohan B et al. Impaired telomere maintenance in Alazami syndrome patients with LARP7 deficiency. BMC Genomics. 2016;17(9):749.  PMID: 27766953.

Najmabadi H et al. Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature. 2011;478(7367):57-63.  PMID: 21937992.

Ling TT et al. Compound heterozygous variants in the LARP7 gene as a cause of Alazami syndrome in a Caucasian female with significant failure to thrive, short stature, and developmental disability. Am J Med Genet A. 2016;170A(1):217-9.  PMID: 26374271.

Imbert-Bouteille M et al. LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters. Eur J Med Genet. 2019;62(3):161-166.  PMID: 30006060.

Dateki S et al. Novel compound heterozygous variants in the LARP7 gene in a patient with Alazami syndrome. Hum Genome Var. 2018;5:18014.  PMID: 29619239.

He N et al. La-related protein modulates 7SK snRNP integrity to suppress P-TEFb-dependent transcriptional elongation and tumorigenesis. Mol Cell. 2008;29(5):588-99.  PMID: 18249148.

Krueger BJ et al. LARP7 is a stable component of the 7SK snRNP while P-TEFb, HEXIM1 and hnRNP A1 are reversibly associated. Nucleic Acids Res. 2008;36(7):2219-2229.  PMID: 18281698.

Markert A et al. The La‐related protein LARP7 is a component of the 7SK ribonucleoprotein and affects transcription of cellular and viral polymerase II genes. EMBO reports. 2008;9(6): 569-75.  PMID: 18483487.