Výsledky vyhledávání - "Diana J. Slater"

A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response

Autor: Alanna Strong, Christopher J. Cardinale, Deborah Watson, Hakon Hakonarson, Jamie Merves, Cuiping Hou, Sophia E. Kim, Lawrence Copelovitch, Jeffrey T. Billheimer, Leslie Raffini, Elaine H. Zackai, Hilary B. Whitworth, Diana J. Slater, Michael E. March, Courtney Vaccaro, Christopher Larosa

Publikováno v: American Journal of Medical Genetics Part A. 188:463-472

Ichthyosis follicularis, atrichia, and photophobia syndrome (IFAP syndrome) is a rare, X-linked disorder caused by pathogenic variants in membrane-bound transcription factor protease, site 2 (MBTPS2). Pathogenic MBTPS2 variants also cause BRESHECK sy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e14e747c733c434f474abe4d8472d98d
https://doi.org/10.1002/ajmg.a.62537

Zobrazit plný text záznamu

A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213

Autor: Cuiping Hou, Kathleen M. Loomes, Erum A. Hartung, Diana J. Slater, Tamir Diamond, Courtney Vaccaro, Sanmati Cuddapah, Alanna Strong, Evelyn K. Shih, Anne Marie Cahill, Gina O'Grady, Deborah Watson, Jonathan R Bishop, Hakon Hakonarson, Dong Li, William Wong

Publikováno v: American Journal of Medical Genetics. Part a

Ring‐finger protein 213 (RNF213) encodes a protein of unknown function believed to play a role in cellular metabolism and angiogenesis. Gene variants are associated with susceptibility to moyamoya disease. Here, we describe two children with moyamo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72d724d2e39535cb50d720613cd03bd2
https://doi.org/10.1002/ajmg.a.62215

Zobrazit plný text záznamu

Single Cell Transcriptome Analysis of Peripheral Blood Mononuclear Cells in Freshly Isolated versus Stored Blood Samples

Autor: Hui-Qi Qu, Charlly Kao, James Garifallou, Fengxiang Wang, James Snyder, Diana J. Slater, Cuiping Hou, Michael March, John J. Connolly, Joseph T. Glessner, Hakon Hakonarson

Publikováno v: Genes; Volume 14; Issue 1; Pages: 142

Background: Peripheral blood mononuclear cells (PBMCs) are widely used as a model in the study of different human diseases. There is often a time delay from blood collection to PBMC isolation during the sampling process, which can result in an experi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dde55c3983ed3343e8f0ee6813c9d232
https://doi.org/10.3390/genes14010142

Zobrazit plný text záznamu

KMT2A‐MAML2 rearrangement emerged and regressed during neuroblastoma therapy without leukemia after 12.8‐year follow‐up

Autor: Carolyn A. Felix, Xiang Yu, Marilyn M. Li, James W Davenport, Eric F. Rappaport, Nai-Kong V. Cheung, Brian D. Gregory, Diana J. Slater

Publikováno v: Pediatr Blood Cancer

Twelve patients without therapy-related leukemia were studied after completing TOP2 poison chemotherapy in a high-risk neuroblastoma regimen. One patient harbored an inv(11) that was a KMT2A rearrangement. The KMT2A-MAML2 transcript was expressed at

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c739b3def13fac7754001d48d5381bd
https://doi.org/10.1002/pbc.29344

Zobrazit plný text záznamu

BglII-based panhandle and reverse panhandle PCR approaches increase capability for cloning der(II) and der(other) genomic breakpoint junctions ofMLL translocations

Autor: Carolyn A. Felix, Diana J. Slater, Blaine W. Robinson

Publikováno v: Genes, Chromosomes and Cancer. 45:740-753

Panhandle PCR techniques to amplify known sequence flanked by unknown sequence have been useful for MLL genomic breakpoint junctions and fusion transcripts because MLL has a large number of partner genes. However, genomic panhandle PCR approaches are

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58cf3241b3d669b468bb92d10d16fcbe
https://doi.org/10.1002/gcc.20336

Zobrazit plný text záznamu

Low NAD(P)H:quinone oxidoreductase activity is associated with increased risk of leukemia with MLL translocations in infants and children

Autor: Luca Lo Nigro, Diana J. Slater, Yunxia Wang, Christine F. Skibola, Carolyn A. Felix, Peter C. Nowell, Beverly J. Lange, Martyn T. Smith

Publikováno v: Blood. 100:4590-4593

An inactivating polymorphism at position 609 in the NAD(P)H:quinone oxidoreductase 1 gene (NQO1 C609T) is associated with an increased risk of adult leukemia. A small British study suggested thatNQO1 C609T was associated with an increased risk of inf

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e85f8c2fbead857350091b37a954b0c4
https://doi.org/10.1182/blood-2001-12-0264

Zobrazit plný text záznamu

Panhandle and reverse-panhandle PCR enable cloning of der(11) and der(other) genomic breakpoint junctions ofMLLtranslocations and identify complex translocation ofMLL,AF-4, andCDK6

Autor: Jaclyn A. Biegel, Peter C. Nowell, Carolyn A. Felix, Eric F. Rappaport, Beverly J. Lange, Luca Lo Nigro, Nai-Kong V. Cheung, Leslie Raffini, Diana J. Slater

Publikováno v: Proceedings of the National Academy of Sciences. 99:4568-4573

We used panhandle PCR to clone the der(11) genomic breakpoint junction in three leukemias with t(4;11) and devised reverse-panhandle PCR to clone the breakpoint junction of the other derivative chromosome. This work contributes two elements to knowle

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a57f9c39957c02846af908daadb64049
https://doi.org/10.1073/pnas.062066799

Zobrazit plný text záznamu

MLL Genomic Breakpoint Distribution Within the Breakpoint Cluster Region in De Novo Leukemia in Children

Autor: Diana J. Slater, Beverly J. Lange, Margaret Masterson, Matthew R. Hosler, Robert I. Parker, Timothy R. Rebbeck, Peter C. Nowell, James A. Whitlock, Carolyn A. Felix

Publikováno v: Journal of Pediatric Hematology/Oncology. 20:299-308

Purpose: To assess translocation breakpoint distribution within the MLL genomic breakpoint cluster region (bcr), 40 cases of de novo leukemia in children were examined by karyotype and Southern blot analysis. Patients and Methods: Criteria for inclus

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bbdd05da642598cf63037d8cabbe39c
https://doi.org/10.1097/00043426-199807000-00004

Zobrazit plný text záznamu

Panhandle Polymerase Chain Reaction Amplifies MLL Genomic Translocation Breakpoint Involving Unknown Partner Gene

Autor: Maureen D. Megonigal, Douglas H. Jones, Eric F. Rappaport, Diana J. Slater, Tammy S. Stump, Peter C. Nowell, Matthew R. Hosler, Carolyn A. Felix, Nancy B. Spinner, Beverly J. Lange, Caroline S Kim

Publikováno v: Blood. 90:4679-4686

We used a new approach called panhandle polymerase chain reaction (PCR) to clone an MLL genomic translocation breakpoint in a case of acute lymphoblastic leukemia of infancy in which karyotype analysis was technically unsuccessful and did not show th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c5fb6a5c9d4bc2ab2969ea1fc0eb71d9
https://doi.org/10.1182/blood.v90.12.4679

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání