Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia

Autor: Ralph S. Lachman, Pavel Krejci, Wenjuan Zhang, S. Paige Taylor, Maya Barad, Deborah Krakow, Deborah A. Nickerson, Jennifer Zieba, Ivan Duran, Michael J. Bamshad, Michaela Bosakova, Jessica X. Chong, Daniel H. Cohn, Fabiana Csukasi, Jorge H. Martin

Publikováno v: EBioMedicine, Vol 62, Iss, Pp 103075-(2020)
EBioMedicine

Background Beyond its structural role in the skeleton, the extracellular matrix (ECM), particularly basement membrane proteins, facilitates communication with intracellular signaling pathways and cell to cell interactions to control differentiation,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d989b370d4b5d0b2bd3305873b164b3
https://escholarship.org/uc/item/61z468bp

Correction: Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria

Autor: Keith Nykamp, Michael Anderson, Martin Powers, John Garcia, Blanca Herrera, Yuan-Yuan Ho, Yuya Kobayashi, Nila Patil, Janita Thusberg, Marjorie Westbrook, Scott Topper, Sienna Aguilar, Swaroop Aradhya, Daniel Beltran, Brandon Bunker, Amy Daly, Anne Deucher, Tali Ekstein, Ali Entezam, Karl Erhard, Ed Esplin, Jennifer Fulbright, Amy Fuller, Kristen McDonald Gibson, Tina Hambuch, Rachel Harte, Christy Hartshorne, Eden Haverfield, Nastaran Heidari, Michelle Hogue, Daniela Iacoboni, Britt Johnson, Hio Chung Kang, Rachel Lewis, Shiloh Martin, Sarah McCalmon, Scott Michalski, Cindy Morgan, Laura Murillo, Piper Nicolosi, Karen Ouyang, Carolina Pardo, Rita Quintana, Marina Rabideau, Darlene Riethmaier, Amanda Stafford, Jackie Tahiliani, Chris Tan, S. Paige Taylor, Shu-Huei Wang, Hannah White, Ian Wilson, Tom Winder, Michelle K. Zeman

Publikováno v: Genetics in Medicine

Purpose The 2015 American College of Medical Genetics and Genomics–Association for Molecular Pathology (ACMG–AMP) guidelines were a major step toward establishing a common framework for variant classification. In practice, however, several aspect

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a146539648054315d9d756d7fc859d77
https://doi.org/10.1038/s41436-019-0624-9

Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia

Autor: Ivan Duran, Daniel H. Cohn, Michael J. Bamshad, Ralph S. Lachman, Deborah A. Nickerson, Faisal Qureshi, S. Paige Taylor, Suzanne M. Jacques, Robert Wallerstein, Wenjuan Zhang, Deborah Krakow, Jorge H. Martin

Publikováno v: Cilia
Cilia, Vol 6, Iss 1, Pp 1-13 (2017)

Background Skeletal ciliopathies comprise a spectrum of ciliary malfunction disorders that have a profound effect on the skeleton. Most common among these disorders is short rib polydactyly syndrome (SRPS), a recessively inherited perinatal lethal co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffd623cc3669ec9ebbec561a0b2a5e79
http://europepmc.org/articles/PMC5387211

An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome

Autor: Jieun Song, Margie Jaworski, Deborah Krakow, Lukas Balek, Michael J. Bamshad, Michaela Bosakova, S. Paige Taylor, Iva Jelínková, Miroslav Varecha, Aleš Hampl, Pavel Krejci, Ivan Duran, Jorge H. Martin, Kimberly N. Forlenza, Iva Vesela, Lukáš Trantírek, Daniel H. Cohn, Tomáš Bárta, Hyuk Wan Ko, Deborah A. Nickerson

Publikováno v: Human molecular genetics. 25(18)

The short rib polydactyly syndromes (SRPS) are a group of recessively inherited, perinatal-lethal skeletal disorders primarily characterized by short ribs, shortened long bones, varying types of polydactyly and concomitant visceral abnormalities. Mut

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4138356c0e38618bf901a4070652c0a4
https://pubmed.ncbi.nlm.nih.gov/27466187

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

Autor: Hadeel Adel Al-Lami, Kevin Drew, Yvonne Yeung, Karen J. Liu, Tae Joo Park, Anne Malfroot, Ghislaine Pierquin, Yannis Duffourd, Chanjae Lee, Marcus R. Kelly, Jiang Chen, Daniella Braun, Christel Thauvin-Robinet, Brunella Franco, Ange Line Bruel, Jacqueline M. Tabler, Kerstin Wagner, Deborah Krakow, Sukyoung Kim, Inusha Panigrahi, Edward M. Marcotte, Jean Baptiste Rivière, Armand Biver, Yeon Ja Choi, S. Paige Taylor, Laurence Faivre, Ivan Duran, Peter K. Jackson, Michinori Toriyama, John B. Wallingford, Daniel H. Cohn, Friedhelm Hildebrandt

Publikováno v: Nature Genetics
Nature Genetics, Nature Publishing Group, 2016, 48 (6), pp.648-656. 〈http://www.nature.com/ng/journal/v48/n6/full/ng.3558.html〉. 〈10.1038/ng.3558〉
Nature genetics
Nature Genetics, Nature Publishing Group, 2016, 48 (6), pp.648-656. ⟨10.1038/ng.3558⟩
Toriyama, M, Lee, C, Taylor, S P, Duran, I, Cohn, D H, Bruel, A L, Tabler, J M, Drew, K, Kelly, M R, Kim, S, Park, T J, Braun, D, Pierquin, G, Biver, A, Wagner, K, Malfroot, A, Panigrahi, I, Franco, B, Al-lami, H A, Yeung, Y, Choi, Y J, Duffourd, Y, Faivre, L, Rivière, J B, Chen, J, Liu, K J, Marcotte, E M, Hildebrandt, F, Thauvin-Robinet, C, Krakow, D, Jackson, P K & Wallingford, J B 2016, ' The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery ', Nature Genetics, vol. 48, no. 6, pp. 648-656 . https://doi.org/10.1038/ng.3558

International audience; Cilia use microtubule-based intraflagellar transport (IFT) to organize intercellular signaling. Ciliopathies are a spectrum of human diseases resulting from defects in cilia structure or function. The mechanisms regulating the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::928387e2666bb11975957837c1cac7b1
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01409096