Search Results - "Kiel, Mark"

Correspondence on “Comparison of literature mining tools for variant classification: Through the lens of 50 RYR1 variants” by Wermers et al by Kiel, Mark J., Kozaric, Amina

Get full text

Uncertainty in the niches that maintain haematopoietic stem cells by Morrison, Sean J, Kiel, Mark J

“…Key Points Haematopoietic stem cells (HSCs) first arise in close association with intraembryonic and extraembryonic blood vessels, then undergo haematopoiesis…”
Get full text

High prevalence of somatic MAP2K1 mutations in BRAF V600E–negative Langerhans cell histiocytosis by Brown, Noah A., Furtado, Larissa V., Betz, Bryan L., Kiel, Mark J., Weigelin, Helmut C., Lim, Megan S., Elenitoba-Johnson, Kojo S.J.

“…Langerhans cell histiocytosis (LCH) represents a clonal proliferation of Langerhans cells. BRAF V600E mutations have been identified in approximately 50% of…”
Get full text

SLAM Family Receptors Distinguish Hematopoietic Stem and Progenitor Cells and Reveal Endothelial Niches for Stem Cells by Kiel, Mark J., Yilmaz, Ömer H., Iwashita, Toshihide, Yilmaz, Osman H., Terhorst, Cox, Morrison, Sean J.

“…To improve our ability to identify hematopoietic stem cells (HSCs) and their localization in vivo, we compared the gene expression profiles of highly purified…”
Get full text

Lack of evidence that hematopoietic stem cells depend on N-cadherin-mediated adhesion to osteoblasts for their maintenance by Kiel, Mark J, Radice, Glenn L, Morrison, Sean J

“…Recent studies have proposed that bone marrow hematopoietic stem cells (HSCs) are maintained via N-cadherin-mediated homophilic adhesion with osteoblasts…”
Get full text

Integrated genomic sequencing reveals mutational landscape of T-cell prolymphocytic leukemia by Kiel, Mark J., Velusamy, Thirunavukkarasu, Rolland, Delphine, Sahasrabuddhe, Anagh A., Chung, Fuzon, Bailey, Nathanael G., Schrader, Alexandra, Li, Bo, Li, Jun Z., Ozel, Ayse B., Betz, Bryan L., Miranda, Roberto N., Medeiros, L. Jeffrey, Zhao, Lili, Herling, Marco, Lim, Megan S., Elenitoba-Johnson, Kojo S.J.

“…The comprehensive genetic alterations underlying the pathogenesis of T-cell prolymphocytic leukemia (T-PLL) are unknown. To address this, we performed…”
Get full text

Whole-genome sequencing identifies recurrent somatic NOTCH2 mutations in splenic marginal zone lymphoma by Kiel, Mark J, Velusamy, Thirunavukkarasu, Betz, Bryan L, Zhao, Lili, Weigelin, Helmut G, Chiang, Mark Y, Huebner-Chan, David R, Bailey, Nathanael G, Yang, David T, Bhagat, Govind, Miranda, Roberto N, Bahler, David W, Medeiros, L Jeffrey, Lim, Megan S, Elenitoba-Johnson, Kojo S J

“…Splenic marginal zone lymphoma (SMZL), the most common primary lymphoma of spleen, is poorly understood at the genetic level. In this study, using whole-genome…”
Get full text

Genomic analyses reveal recurrent mutations in epigenetic modifiers and the JAK–STAT pathway in Sézary syndrome by Kiel, Mark J., Sahasrabuddhe, Anagh A., Rolland, Delphine C. M., Velusamy, Thirunavukkarasu, Chung, Fuzon, Schaller, Matthew, Bailey, Nathanael G., Betz, Bryan L., Miranda, Roberto N., Porcu, Pierluigi, Byrd, John C., Medeiros, L. Jeffrey, Kunkel, Steven L., Bahler, David W., Lim, Megan S., Elenitoba-Johnson, Kojo S. J.

“…Sézary syndrome (SS) is an aggressive leukaemia of mature T cells with poor prognosis and limited options for targeted therapies. The comprehensive genetic…”
Get full text

Clostridium difficile Ribotype 027: Relationship to Age, Detectability of Toxins A or B in Stool With Rapid Testing, Severe Infection, and Mortality by Rao, Krishna, Micic, Dejan, Natarajan, Mukil, Winters, Spencer, Kiel, Mark J., Walk, Seth T., Santhosh, Kavitha, Mogle, Jill A., Galecki, Andrzej T., LeBar, William, Higgins, Peter D. R., Young, Vincent B., Aronoff, David M.

“…Background. Clostridium difficile infection (CDI) can cause severe disease and death, especially in older adults. A better understanding of risk factors for…”
Get full text

Hematopoietic Stem Cells Do Not Depend on N-Cadherin to Regulate Their Maintenance by KIEL, Mark J, ACAR, Melih, RADICE, Glenn L, MORRISON, Sean J

“…According to the "osteoblastic niche" model, hematopoietic stem cells (HSCs) are maintained by N-cadherin-mediated homophilic adhesion to osteoblasts at the…”
Get full text

An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration by Kurtovic-Kozaric, Amina, Singer-Berk, Moriel, Wood, Jordan, Evangelista, Emily, Panwala, Leena, Hope, Amanda, Heinrich, Stefanie M, Baxter, Samantha, Kiel, Mark J

“…PLA2G6-associated neurodegeneration (PLAN) comprises three diseases with overlapping features: infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal…”
Get full text

Haematopoietic stem cells do not asymmetrically segregate chromosomes or retain BrdU by Ashkenazi, Rina, Jackson, Trachette L, Morrison, Sean J, Kiel, Mark J, Gentry, Sara N, Teta, Monica, Kushner, Jake A, He, Shenghui

“…Stem cells are proposed to segregate chromosomes asymmetrically during self-renewing divisions so that older ('immortal') DNA strands are retained in daughter…”
Get full text

Maintaining Hematopoietic Stem Cells in the Vascular Niche by Kiel, Mark J., Morrison, Sean J.

“…In this issue of Immunity, Sugiyama et al. (2006) provide evidence that most bone-marrow hematopoietic stem cells (HSCs) reside in vascular niches containing…”
Get full text

Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation by Chunn, Lauren M, Nefcy, Diane C, Scouten, Rachel W, Tarpey, Ryan P, Chauhan, Gurinder, Lim, Megan S, Elenitoba-Johnson, Kojo S J, Schwartz, Steven A, Kiel, Mark J

“…Design and interpretation of genome sequencing assays in clinical diagnostics and research labs is complicated by an inability to identify information from the…”
Get full text

Novel PHEX gene locus‐specific database: Comprehensive characterization of vast number of variants associated with X‐linked hypophosphatemia (XLH) by Sarafrazi, Soodabeh, Daugherty, Sean C., Miller, Nicole, Boada, Patrick, Carpenter, Thomas O., Chunn, Lauren, Dill, Kariena, Econs, Michael J., Eisenbeis, Scott, Imel, Erik A., Johnson, Britt, Kiel, Mark J., Krolczyk, Stan, Ramesan, Prameela, Truty, Rebecca, Sabbagh, Yves

“…X‐linked hypophosphatemia (XLH), the most common form of hereditary hypophosphatemia, is caused by disrupting variants in the PHEX gene, located on the X…”
Get full text

ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus‐specific patient database by Mercurio, Stephanie A., Chunn, Lauren M., Khursigara, Gus, Nester, Catherine, Wray, Kathleen, Botschen, Ulrike, Kiel, Mark J., Rutsch, Frank, Ferreira, Carlos R.

“…Loss‐of‐function variants in the ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (ENPP1) cause ENPP1 Deficiency, a rare disorder characterized…”
Get full text

Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases by Chunn, Lauren M, Bissonnette, Jeffrey, Heinrich, Stefanie V, Mercurio, Stephanie A, Kiel, Mark J, Rutsch, Frank, Ferreira, Carlos R

“…ENPP1 Deficiency-caused by biallelic variants in ENPP1-leads to widespread arterial calcification in early life (Generalized Arterial Calcification of Infancy,…”
Get full text

A novel recurrent NPM1-TYK2 gene fusion in cutaneous CD30-positive lymphoproliferative disorders by Velusamy, Thirunavukkarasu, Kiel, Mark J., Sahasrabuddhe, Anagh A., Rolland, Delphine, Dixon, Catherine A., Bailey, Nathanael G., Betz, Bryan L., Brown, Noah A., Hristov, Alexandra C., Wilcox, Ryan A., Miranda, Roberto N., Medeiros, L. Jeffrey, Jeon, Yoon K., Inamdar, Kedar V., Lim, Megan S., Elenitoba-Johnson, Kojo S.J.

“…The spectrum of cutaneous CD30-positive lymphoproliferative disorders (LPDs) includes lymphomatoid papulosis and primary cutaneous anaplastic large cell…”
Get full text

Enhanced purification of fetal liver hematopoietic stem cells using SLAM family receptors by Kim, Injune, He, Shenghui, Yilmaz, Ömer H., Kiel, Mark J., Morrison, Sean J.

“…Although adult mouse hematopoietic stem cells (HSCs) have been purified to near homogeneity, it remains impossible to achieve this with fetal HSCs. Adult HSC…”
Get full text

SLAM family markers are conserved among hematopoietic stem cells from old and reconstituted mice and markedly increase their purity by Yilmaz, Ömer H., Kiel, Mark J., Morrison, Sean J.

“…Recent advances have increased the purity of hematopoietic stem cells (HSCs) isolated from young mouse bone marrow. However, little attention has been paid to…”
Get full text