G
Gretel Beck
Researcher at University of Iowa
Publications - 8
Citations - 1945
Gretel Beck is an academic researcher from University of Iowa. The author has contributed to research in topics: Gene & Polydactyly. The author has an hindex of 8, co-authored 8 publications receiving 1869 citations. Previous affiliations of Gretel Beck include Howard Hughes Medical Institute.
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Journal ArticleDOI
Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia.
Roxanne Y Walder,Daniel Landau,Peter Meyer,Hanna Shalev,Maria Tsolia,Zvi Borochowitz,Melanie Barbara Boettger,Gretel Beck,Richard K Englehardt,Rivka Carmi,Val C. Sheffield +10 more
TL;DR: It is reported that mutation of TRPM6 causes hypomagnesemia with secondary hypocalcemia and it is shown that individuals carrying mutations in this gene have abnormal renal magnesium excretion.
Journal ArticleDOI
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate
Neena B. Haider,Samuel G. Jacobson,Artur V. Cideciyan,Ruth E. Swiderski,Luan M. Streb,Charles Searby,Gretel Beck,Robin R. Hockey,David B. Hanna,Susan W. Gorman,David Duhl,Rivka Carmi,Jean Bennett,Richard G. Weleber,Gerald A. Fishman,Alan F. Wright,Edwin M. Stone,Val C. Sheffield +17 more
TL;DR: The results suggest that NR2E3 has a role in determining photoreceptor phenotype during human retinogenesis, and may be due to abnormal cone cell fate determination during retinal development.
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Identification of the gene that, when mutated, causes the human obesity syndrome BBS4
Kirk Mykytyn,Terry A. Braun,Terry A. Braun,Rivka Carmi,Neena B. Haider,Charles Searby,Mythreyi Shastri,Gretel Beck,Alan F. Wright,Alessandro Iannaccone,Khalil Elbedour,Ruth Riise,Alfonso Baldi,Annick Raas-Rothschild,Susan W. Gorman,David Duhl,Samuel G. Jacobson,Thomas L. Casavant,Edwin M. Stone,Val C. Sheffield +19 more
TL;DR: The positional cloning and identification of mutations in BBS patients in a novel gene designated BBS4 is reported, which has no significant similarity to other chaperonins or known proteins.
Journal Article
An analysis of allelic variation in the ABCA4 gene
Andrew R. Webster,Elise Heon,Andrew J. Lotery,Kimberlie Vandenburgh,Thomas L. Casavant,Kean T. Oh,Gretel Beck,Gerald A. Fishman,Byron L. Lam,Alex Levin,John R. Heckenlively,Samuel G. Jacobson,Richard G. Weleber,Val C. Sheffield,Edwin M. Stone +14 more
TL;DR: The nucleotide diversity of the ABCA4 coding region, a collective measure of the number and prevalence of polymorphic sites in a region of DNA, was found to be 1.28, a value that is 9 to 400 times greater than that of two other macular disease genes that were examined in a similar fashion.
Journal ArticleDOI
Evidence supporting WNT2 as an autism susceptibility gene.
Thomas H. Wassink,Joseph Piven,Veronica J. Vieland,Jian Huang,Ruth E. Swiderski,Jennifer Pietila,Terry A. Braun,Gretel Beck,Susan E. Folstein,Jonathon L. Haines,Val C. Sheffield +10 more
TL;DR: It is hypothesize that rare mutations occur in the WNT2 gene that significantly increase susceptibility to autism even when present in single copies, while a more common W NT2 allele (or alleles) not yet identified may exist that contributes to the disorder to a lesser degree.