@article {62,
	title = {A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.},
	journal = {Am J Hum Genet},
	volume = {98},
	year = {2016},
	month = {2016 05 05},
	pages = {909-918},
	abstract = {<p>The proteins encoded by TELO2, TTI1, and TTI2 interact to form the TTT complex, a co-chaperone for maturation of the phosphatidylinositol 3-kinase-related protein kinases (PIKKs). Here we report six affected individuals from four families with intellectual disability (ID) and neurological and other congenital abnormalities associated with compound heterozygous variants in TELO2. Although their fibroblasts showed reduced steady-state levels of TELO2 and the other components of the TTT complex, PIKK functions were normal in cellular assays. Our results suggest that these TELO2 missense variants result in loss of function, perturb TTT complex stability, and cause an autosomal-recessive syndromic form of ID.</p>},
	keywords = {Adolescent, Carrier Proteins, Child, Female, Humans, Intellectual Disability, Male, Molecular Chaperones, Pedigree, Phosphatidylinositol 3-Kinases, Protein-Serine-Threonine Kinases, Telomere-Binding Proteins},
	issn = {1537-6605},
	doi = {10.1016/j.ajhg.2016.03.014},
	author = {You, Jing and Sobreira, Nara L and Gable, Dustin L and Jurgens, Julie and Grange, Dorothy K and Belnap, Newell and Siniard, Ashley and Szelinger, Szabolcs and Schrauwen, Isabelle and Richholt, Ryan F and Vallee, Stephanie E and Dinulos, Mary Beth P and Valle, David and Armanios, Mary and Hoover-Fong, Julie}
}
@article {191,
	title = {γ-Secretase Mutation in an African American Family With Hidradenitis Suppurativa.},
	journal = {JAMA Dermatol},
	volume = {151},
	year = {2015},
	month = {2015 Jun},
	pages = {668-70},
	keywords = {Adolescent, Adult, African Americans, Amyloid Precursor Protein Secretases, Exome, Female, Hidradenitis Suppurativa, Humans, Membrane Glycoproteins, Middle Aged, Mutation, Sequence Analysis, DNA, Young Adult},
	issn = {2168-6084},
	doi = {10.1001/jamadermatol.2014.5306},
	author = {Chen, Sean and Mattei, Peter and You, Jing and Sobreira, Nara L and Hinds, Ginette A}
}
