Anlu Chen
Case Western Reserve University
9 Papers
8 Citations
Anlu Chen is an academic researcher from Case Western Reserve University. The author has contributed to research in topics: Allele & Epistasis. The author has an hindex of 4, co-authored 9 publications. Previous affiliations of Anlu Chen include Harvard University.
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Papers
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction
Dov Tiosano,Dov Tiosano,Hagit N. Baris,Hagit N. Baris,Anlu Chen,Marrit M. Hitzert,Markus Schueler,Federico Gulluni,Antje Wiesener,Antonio Bergua,Adi Mory,Brett Copeland,Joseph G. Gleeson,Joseph G. Gleeson,Patrick Rump,Hester van Meer,Deborah A Sival,Volker Haucke,Josh Kriwinsky,Karl X. Knaup,André Reis,Nadine N. Hauer,Emilio Hirsch,Ronald Roepman,Rolph Pfundt,Christian Thiel,Michael S. Wiesener,Mariam G Aslanyan,David A. Buchner +28 more
TL;DR: The considerable phenotypic overlap, yet distinct features, between this syndrome and Lowe’s syndrome, which is caused by mutations in the PI-5-phosphatase OCRL, highlight the key role of PI metabolizing enzymes in specific developmental processes and demonstrate the unique non-redundant functions of each enzyme.
Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency.
Anlu Chen,Dov Tiosano,Dov Tiosano,Tulay Guran,Hagit N. Baris,Hagit N. Baris,Yavuz Bayram,Adi Mory,Laura Shapiro-Kulnane,Craig A. Hodges,Zeynep Coban Akdemir,Serap Turan,Shalini N. Jhangiani,Focco van den Akker,Charles L. Hoppel,Helen K. Salz,James R. Lupski,David A. Buchner +17 more
TL;DR: It is identified that MRPS22, a component of the small mitochondrial ribosome subunit, is critical for ovarian development and may therefore provide insight into the pathophysiology and treatment of ovarian dysfunction.
A novel mapping strategy utilizing mouse chromosome substitution strains identifies multiple epistatic interactions that regulate complex traits
TL;DR: These findings highlight the need to account for epistasis in association studies, and more broadly demonstrate the importance of identifying genetic interactions to understand the complete genetic architecture of complex traits.
Mutations In PIK3C2A Cause Syndromic Short Stature, Skeletal Abnormalities, and Cataracts Associated With Ciliary Dysfunction
Dov Tiosano,Dov Tiosano,Hagit N. Baris,Anlu Chen,Marrit M. Hitzert,Markus Schueler,Federico Gulluni,Antje Wiesener,Antonio Bergua,Adi Mory,Brett Copeland,Joseph G. Gleeson,Patrick Rump,Hester van Meer,Deborah A Sival,Volker Haucke,Josh Kriwinsky,Karl X. Knaup,André Reis,Nadine N. Hauer,Emilio Hirsch,Ronald Roepman,Rolph Pfundt,Christian Thiel,Michael S. Wiesener,Mariam G Aslanyan,David A. Buchner +26 more
TL;DR: The genetic and molecular data implicate mutations in PIK3C2A in a new Mendelian disorder of PI metabolism, thereby shedding light on the critical role of a class II PI3K in growth, vision, skeletal formation and neurological development.
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Revealing heritability missed by single locus analyses by examining epistasis in mouse chromosome substitution strains
TL;DR: CSSs were utilized to identify and map both additive and epistatic loci that regulate a range of hematologic- and metabolism-related traits, as well as hepatic gene expression, demonstrating the importance of identifying genetic interactions to understand the genetic architecture of complex traits.
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