Results 101 to 110 of about 394,130 (296)

Generation of a human Juvenile myelomonocytic leukemia iPSC line, CHOPi001-A, with a mutation in CBL

Stem Cell Research, 2018
Juvenile myelomonocytic leukemia (JMML) is a rare myeloproliferative disorder of early childhood characterized by expansion of clonal myelomonocytic cells and hyperactive Ras/MAPK signaling.
Alyssa L. Gagne, Jean Ann Maguire, Shilpa Gandre-Babbe, Stella T. Chou, Sarah K. Tasian, Mignon L. Loh, Mitchell J. Weiss, Paul Gadue, Deborah L. French   +8 more
doaj   +1 more source

Single‐Cell Transcriptomics and Metabolomics Reveal Glutamate Dehydrogenase as a Central Regulator of Nitrogen Metabolic Remodeling During Alkalinity Adaptation in Crustaceans

Advanced Science, EarlyView.
Single‐cell transcriptomics reveals the cellular response of Macrobrachium hainanense to carbonate alkalinity stress. Alkalinity stress impairs branchial ammonia excretion, induces mitochondrial dysfunction, and drives cell‐type‐specific changes in gills and hemocytes.
Yiting Jin, Zhimin Lv, Chao Bian, Qibin Yang, Na Zhou, Jianguang Qin, Shengming Sun   +6 more
wiley   +1 more source

Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth, Benjamin Kelly, Sheyanth Mohanakumar, Steffen Ringgaard, Yoav Dori, Irene Kibæk Nielsen, Uffe Birk Jensen, Vibeke Elisabeth Hjortdal   +7 more
wiley   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

RAS-MAPK Pathway-Driven Tumor Progression Is Associated with Loss of CIC and Other Genomic Aberrations in Neuroblastoma.

Cancer Research, 2018
Mutations affecting the RAS-MAPK pathway frequently occur in relapsed neuroblastoma tumors, which suggests that activation of this pathway is associated with a more aggressive phenotype.
T. F. Eleveld, L. Schild, J. Koster, D. Zwijnenburg, L. Alles, M. E. Ebus, R. Volckmann, Godelieve A Tijtgat, P. V. van Sluis, R. Versteeg, J. Molenaar   +10 more
semanticscholar   +1 more source

The Role of miRNAs in Chicken Immune Regulation and Prospects for Disease‐Resistant Breeding

Animal Research and One Health, EarlyView.
A schematic workflow illustrating the screening of disease‐resistant miRNAs and the generation of miRNA‐based disease‐resistant chickens via PGC‐mediated germline genome editing. ABSTRACT MicroRNAs (miRNAs) are emerging as pivotal regulators of the immune system, playing a decisive role in shaping disease resistance in chicken.
Qiangzhou Wang, Weiran Wu, Qingqing Cai, Jiaxing Wang, Qi Gao, Muhammad Iftikhar, Yulin Bi, Hao Bai, Lihong Gu, Guobin Chang, Shihao Chen   +10 more
wiley   +1 more source

Clinical Consequences of Cancer-related RAS Signaling Pathway Beyond Malignancy

Acta Haematologica Oncologica Turcica
Aim: Mosaic variants in oncogenic signaling pathways, particularly the Rat Sarcoma/Mitogen-Activated Protein Kinase (RAS/MAPK) cascade, are increasingly recognized causes of non-malignant developmental disorders presenting with segmental cutaneous ...
Elifcan Taşdelen, Afife Büke, Abdullah Sezer, Abdulkerim Kolkıran, Ahmet Kablan, Ayşe Burcu Doğan Arı, Esra Kılıç, İbrahim Kaplan, Müzeyyen Gönül   +8 more
doaj   +1 more source

Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects

Disease Models & Mechanisms, 2011
SUMMARY Noonan syndrome is a relatively common developmental disorder that is characterized by reduced growth, wide-set eyes and congenital heart defects. Noonan syndrome is associated with dysregulation of the Ras–mitogen-activated-protein-kinase (MAPK)
Vincent Runtuwene, Mark van Eekelen, John Overvoorde, Holger Rehmann, Helger G. Yntema, Willy M. Nillesen, Arie van Haeringen, Ineke van der Burgt, Boudewijn Burgering, Jeroen den Hertog   +9 more
doaj   +1 more source

RAS/MAPK activation is associated with reduced tumor-infiltrating lymphocytes in triple-negative breast cancer: therapeutic cooperation between MEK and PD-1/PD-L1 immune checkpoint inhibitors

Clinical Cancer Research, 2015
Purpose: Tumor-infiltrating lymphocytes (TIL) in the residual disease (RD) of triple-negative breast cancers (TNBC) after neoadjuvant chemotherapy (NAC) are associated with improved survival, but insight into tumor cell-autonomous molecular pathways ...
S. Loi, S. Dushyanthen, P. Beavis, R. Salgado, C. Denkert, P. Savas, Susan E. Combs, D. Rimm, J. Giltnane, M. V. Estrada, V. Sanchez, M. Sanders, R. Cook, Mark A. Pilkinton, S. Mallal, Kai Wang, V. Miller, P. Stephens, R. Yelensky, Franco Doimi, H. Gómez, Sergey Ryzhov, P. Darcy, C. Arteaga, J. Balko   +24 more
semanticscholar   +1 more source