Neurological manifestations of Erdheim–Chester Disease

Autor: Louisa C. Boyd, Kevin J. O’Brien, Neval Ozkaya, Tanya Lehky, Avner Meoded, Bernadette R. Gochuico, Fady Hannah‐Shmouni, Avindra Nath, Camilo Toro, William A. Gahl, Juvianee I. Estrada‐Veras, Rahul H. Dave

Publikováno v: Annals of Clinical and Translational Neurology, Vol 7, Iss 4, Pp 497-506 (2020)

Abstract Objective To characterize the spectrum of neurologic involvement in Erdheim–Chester Disease (ECD), a treatable inflammatory neoplasm of histiocytes. Methods Sixty‐two patients with ECD were prospectively enrolled in a natural history stu

Externí odkaz: https://doaj.org/article/7bc24ecb1c674000842767b68497b8ee

The clinical spectrum of Erdheim-Chester disease: an observational cohort study

Autor: Juvianee I. Estrada-Veras, Kevin J. O'Brien, Louisa C. Boyd, Rahul H. Dave, Benjamin H. Durham, Liqiang Xi, Ashkan A. Malayeri, Marcus Y. Chen, Pamela J. Gardner, Jhonell R. Alvarado Enriquez, Nikeith Shah, Omar Abdel-Wahab, Bernadette R. Gochuico, Mark Raffeld, Elaine S. Jaffe, William A. Gahl

Publikováno v: Blood Advances, Vol 1, Iss 6, Pp 357-366 (2017)

Abstract: Erdheim-Chester disease (ECD) is a rare, potentially fatal multiorgan myeloid neoplasm occurring mainly in adults. The diagnosis is established by clinical, radiologic, and histologic findings; ECD tumors contain foamy macrophages that are

Externí odkaz: https://doaj.org/article/c7fc72f674044198904b8e756e46fd93

Novel findings and expansion of phenotype in a mosaicRASopathycaused by somaticKRASvariants

Autor: Anna Lehman, Tugce B. Balci, Kyle C. Kurek, Renee Perrier, Carol Diamond, Caitlin A Chang, Glenda Hendson, Stephen Yip, Juvianee I Estrada-Veras, Jennifer M Tran, Kim M. Keppler-Noreuil, Jason W Pinchot, Lisa M. Arkin, Beth A. Drolet, Melanie Napier, Sarah A O'Neill

Publikováno v: American Journal of Medical Genetics Part A. 185:2829-2845

Mosaic KRAS variants and other RASopathy genes cause oculoectodermal, encephalo-cranio-cutaneous lipomatosis, and Schimmelpenning-Feuerstein-Mims syndromes, and a spectrum of vascular malformations, overgrowth and other associated anomalies, the latt

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9ed304c92e4e7ebf1512f7d1538d4d9
https://doi.org/10.1002/ajmg.a.62356

Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness

Autor: Juvianee I. Estrada-Veras, Eirik Frengen, Linda Mathisen, Liz Enyenihi, Hans Einar Treidene, Daniah Beleford, Yue Si, Ganka Douglas, Michelle Foreman, Jacque L. Duncan, Jennifer E. Hurtig, Anne Slavotinek, Erik-Jan Kamsteeg, Charlotte A. Haaxma, Sara W. Leung, Milo B. Fasken, Ambro van Hoof, Anita H. Corbett, Dina Schneidman-Duhovny, Stephanie Htun, Doriana Misceo, Maria C. Sterrett, Vivian Xia

Publikováno v: Human Molecular Genetics, 29, 13, pp. 2218-2239
Hum Mol Genet
Human molecular genetics, vol 29, iss 13
Human Molecular Genetics, 29, 2218-2239

Contains fulltext : 225143.pdf (Publisher’s version ) (Closed access) The RNA exosome is an essential ribonuclease complex required for processing and/or degradation of both coding and non-coding RNAs. We identified five patients with biallelic var

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::619de630446be920565ee1a38cd9d0d6
https://doi.org/10.1093/hmg/ddaa108

Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish

Autor: Sheng-Jia Lin, Barbara Vona, Patricia G. Barbalho, Rauan Kaiyrzhanov, Reza Maroofian, Cassidy Petree, Mariasavina Severino, Valentina Stanley, Pratishtha Varshney, Paulina Bahena, Fatema Alzahrani, Amal Alhashem, Alistair T. Pagnamenta, Gudrun Aubertin, Juvianee I. Estrada-Veras, Héctor Adrián Díaz Hernández, Neda Mazaheri, Andrea Oza, Jenny Thies, Deborah L. Renaud, Sanmati Dugad, Jennifer McEvoy, Tipu Sultan, Lynn S. Pais, Brahim Tabarki, Daniel Villalobos-Ramirez, Aboulfazl Rad, J.C. Ambrose, P. Arumugam, M. Bleda, F. Boardman-Pretty, C.R. Boustred, H. Brittain, M.J. Caulfield, G.C. Chan, T. Fowler, A. Giess, A. Hamblin, S. Henderson, T.J.P. Hubbard, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, A. Kousathanas, L. Lahnstein, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, P. O‘Donovan, C.A. Odhams, C. Patch, D. Perez-Gil, M.B. Pereira, J. Pullinger, T. Rahim, A. Rendon, T. Rogers, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, S.C. Smith, A. Sosinsky, A. Stuckey, M. Tanguy, E.R.A. Thomas, S.R. Thompson, A. Tucci, E. Walsh, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, Hamid Galehdari, Farah Ashrafzadeh, Afsaneh Sahebzamani, Kolsoum Saeidi, Erin Torti, Houda Z. Elloumi, Sara Mora, Timothy B. Palculict, Hui Yang, Jonathan D. Wren, null Ben Fowler, Manali Joshi, Martine Behra, Shawn M. Burgess, Swapan K. Nath, Michael G. Hanna, Margaret Kenna, J. Lawrence Merritt, Henry Houlden, Ehsan Ghayoor Karimiani, Maha S. Zaki, Thomas Haaf, Fowzan S. Alkuraya, Joseph G. Gleeson, Gaurav K. Varshney

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics. 23(10)

Pathogenic variants in Lysyl-tRNA synthetase 1 (KARS1) have increasingly been recognized as a cause of early-onset complex neurological phenotypes. To advance the timely diagnosis of KARS1-related disorders, we sought to delineate its phenotype and g

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91f3ae350cc512f0b956a6e8d9210c51
https://pubmed.ncbi.nlm.nih.gov/34172899