A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb–polysyndactyly syndrome

Autor: Potuijt, Jacob W.P. ¹, Baas, Martijn ¹, Sukenik-Halevy, Rivka ^{2, 3, 4}, Douben, Hannie ⁵, Nguyen, Picard ¹, Venter, Deon J. ^{6, 7, 8}, Gallagher, Renée ⁶, Swagemakers, Sigrid M. ^{9, 10}, Hovius, Steven E.R. ¹, van Nieuwenhoven, Christianne A. ¹, Galjaard, Robert-Jan H. ⁵, van der Spek, Peter J. ^{9, 10}, Ahituv, Nadav ^{2, 3}, de Klein, Annelies ⁵

Publikováno v: In Genetics in Medicine November 2018 20(11):1405-1413

Variable expression of subclinical phenotypes instead of reduced penetrance in families with mild triphalangeal thumb phenotypes

Autor: Robert Jan H. Galjaard, Esther de Graaff, Christianne A. van Nieuwenhoven, Jeannette Hoogeboom, Jacob W P Potuijt

Publikováno v: Journal of Medical Genetics
Journal of Medical Genetics, 57(10), 660-663. BMJ Publishing Group

BackgroundThe of zone of polarizing activity regulatory sequence (ZRS) is a regulatory element residing in intron 5 of LMBR1 and regulates Sonic Hedgehog expression in the limb bud. Variants in the ZRS are generally fully penetrant and can cause trip

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10fe65fc72e3013ef2539026dbdc0105
http://europepmc.org/articles/PMC7525795

A multidisciplinary review of triphalangeal thumb

Autor: Jacob W P Potuijt, Christianne A. van Nieuwenhoven, Peter J. van der Spek, Nadav Ahituv, Steven E.R. Hovius, Kerby C. Oberg, Robert-Jan H. Galjaard

Publikováno v: The Journal of Hand Surgery, European Volume
Journal of Hand Surgery. European Volume, 44, 59-68
Journal of Hand Surgery. European Volume, 44, 1, pp. 59-68
The Journal of hand surgery, European volume, vol 44, iss 1
Journal of Hand Surgery-European Volume, 44(1), 59-68. SAGE Publications Ltd

Contains fulltext : 203356.pdf (Publisher’s version ) (Open Access) Despite being a rare congenital limb anomaly, triphalangeal thumb is a subject of research in various scientific fields, providing new insights in clinical research and evolutionar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d18a43e982d0a36e8b31f5aa758e862b
https://doi.org/10.1177/1753193418803521

A Genetic Variant Associated with Five Vascular Diseases Is a Distal Regulator of Endothelin-1 Gene Expression

Autor: Carolina Roselli, Renate B. Schnabel, Valerio Bianchi, Aditi Trehan, Joseph E. Hadaya, Derek Klarin, Wouter de Laat, Amit Khera, Bradley E. Bernstein, Connor A. Emdin, Jesse M. Engreitz, Christian Mueller, Seyedeh M. Zekavat, Robbyn Issner, Russell J.H. Ryan, Catharina R.E. Hilvering, Noam Shoresh, Charles B. Epstein, Jonathan D. Brown, Sekar Kathiresan, Rajat M. Gupta

Publikováno v: Cell, 170(3), 522-533.e15. Elsevier B.V.
Cell, 170(3), 522-533.e15. Cell Press
Cell, 170(3), 522. Cell Press

Genome-wide association studies (GWASs) implicate the PHACTR1 locus (6p24) in risk for five vascular diseases, including coronary artery disease, migraine headache, cervical artery dissection, fibromuscular dysplasia, and hypertension. Through geneti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e5854b1c98bf0052edf0cdd381a769d
https://pure.knaw.nl/portal/en/publications/722caf75-591a-4bc8-ac9b-67a211a4909a

Tissue restricted expression and chromosomal localization of the YB-1 gene encoding a 42 kD nuclear CCAAT binding protein

Autor: Hajo Delius, Nancy A. Jenkins, Neal G. Copeland, Fjodor Kisseljov, Brigitte Royer-Pokora, Dimitri D. Spitkovsky, Debra J. Gilbert, Hans Dieter Royer

Publikováno v: Nucleic Acids Research 20 (4): 797-803.

YB-1 cDNA clones were isolated by binding site screening of a Hela expression library using a human papillomavirus type 18 enhancer oligonucleotide. YB-1 belongs to a family of transcription factors which bind to recognition sequences containing a co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06d2e964f6e086827c6fdaa8c3973afa
http://edoc.mdc-berlin.de/911/