Results 41 to 50 of about 1,898 (155)

The TRPM7 interactome defines a cytoskeletal complex linked to neuroblastoma progression [PDF]

, 2016
Neuroblastoma is the second-most common solid tumor in children and originates from poorly differentiated neural crest-derived progenitors. Although most advanced stage metastatic neuroblastoma patients initially respond to treatment, a therapy resistant
Clark, K, Jalink, K, Koster, J, Lasonder, E, Middelbeek, J, van Leeuwen, FN, Visser, D, Vrenken, K   +7 more
core   +2 more sources

EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model [PDF]

Birth Defects Research Part A: Clinical and Molecular Teratology, 2015
BackgroundCongenital microphthalmia and coloboma are severe developmental defects that are frequently associated with additional systemic anomalies and display a high level of genetic heterogeneity.MethodsTo identify the pathogenic variant in a patient with microphthalmia, coloboma, retinal dystrophy, microcephaly, and other features, whole exome ...
Brett, Deml, Linda M, Reis, Sanaa, Muheisen, David, Bick, Elena V, Semina   +4 more
openaire   +2 more sources

Friend of Prmt1, FOP is a novel component of the nuclear SMN complex isolated using biotin affinity purification [PDF]

, 2014
SMN (survival motor neuron protein) complexes are essential for the biogenesis of uridine-rich small nuclear ribonucleoproteins (UsnRNPs). During the biogenesis, the SMN complexes bound to UsnRNPs are transported from the cytoplasm to the nucleus, and ...
Ishikawa, H. (Hiroki), Isobe, T. (Toshiaki), Izumikawa, K. (Keiichi), Miyazawa, N. (Naoki), Nakayama, H. (Hiroshi), Nobe, Y. (Yuko), Philipsen, J.N.J. (Sjaak), Takahashi, N. (Nozomi), Taoka, M. (Masato), Terukina, G. (Goro), Yamauchi, N. (Naoto), Yoshikawa, H. (Harunori)   +11 more
core   +2 more sources

Recurrent Constellations of Embryonic Malformations (RCEM): Teratogenicity Linked to Transient Hypoxia and Hormone Pregnancy Tests Agrees With RCEM and Suggest a Reactive Oxygen Species Pathogenesis

Birth Defects Research, Volume 118, Issue 3, March 2026.
ABSTRACT Background No consistent genetic etiology has been found for a group of six different conditions in humans with multiple malformations called “recurrent constellations of embryonic malformations” (RCEM). Recent studies indicate hypoxia/reoxygenation and generation Reactive Oxygen Species (ROS) as an underlying mechanism for RCEM with the ...
Aaron P. Adam, Helen E. Ritchie, Margaret P. Adam, Bengt R. Danielsson   +3 more
wiley   +1 more source

Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2. [PDF]

Mol Genet Genomic Med
AbstractBackgroundMandibulofacial dysostosis with microcephaly (MFDM, OMIM# 610536) is a rare monogenic disease that is caused by a mutation in the elongation factor Tu GTP binding domain containing 2 gene (EFTUD2, OMIM* 603892). It is characterized by mandibulofacial dysplasia, microcephaly, malformed ears, cleft palate, growth and intellectual ...
Chen Y, Yang R, Chen X, Lin N, Li C, Fu Y, He A, Wang Y, Zhang T, Ma J.   +9 more
europepmc   +4 more sources

Comparative proteome analysis of three mouse lung adenocarcinoma CMT cell lines with different metastatic potential by two-dimensional gel electrophoresis and mass spectrometry [PDF]

, 2008
Udgivelsesdato: 2008-Nov-10Metastasis is a lethal attribute of a cancer and presents a continuing therapeutic challenge. Metastasis is a highly complex process and more knowledge about the mechanisms behind metastasis is highly desirable.
, Aitken, Balasubramani, Berg, Blomberg, Boelens, Brake, Bühler, Chang, Chen, Chen, Cherbonnel-Lasserre, Cribier, Cui, Dehan, Dennis, Ding, Dragani, Fey, Fey, Franks, Franks, Fu, Fu, Fujita, Fukunaga, Garrel, Gobom, Hendrix, Hermeking, Hoffmann-Fazel, Hunter, Husain, Ismail, Iwaya, Jin, Kanaji, Kim, Knosel, Layton, Leys, Li, Magin, Mani, Mehlen, Meuwissen, Miyasaka, Moll, Nakanishi, Nielsen, Nikitin, Oremek, Qi, Quinlan, Rogowska-Wrzesinska, Satoh, Schaller, Sekido, Sekido, Shen, Steeg, Stein, Stojadinovic, Tojo, Tsubokawa, Uchikado, Umbricht, Urano, van Hemert, Voges, Wang, Wasenius, Welch, Welch, Wilker, Woodhouse, Zhang, Zhang, Zhou   +78 more
core   +1 more source

The Intersection of m6A Methylation and Immune Response in PCOS: A Bioinformatics Perspective

Immunity, Inflammation and Disease, Volume 14, Issue 2, February 2026.
N6‐methyladenosine RNA methylation regulators are intricately linked with the development of polycystic ovary syndrome (PCOS) and may influence immune cell infiltration in affected individuals. This study enhances our understanding of the molecular interactions in PCOS and suggests potential biomarkers for diagnosis and targets for therapeutic ...
Wenting Xu, Lingli Shi, Aifang Lu, Lijuan Cui, Haiqing Qian, Jiahui Wang, Mengyu Tang, Lili Zhu, Lihong Wang   +8 more
wiley   +1 more source

Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare Diseases. [PDF]

, 2016
Rare genetic disorders, which can now be studied systematically with affordable genome sequencing, are often caused by high-penetrance rare variants.
Greene, Daniel, NIHR BioResource, Richardson, Sylvia, Turro, Ernest   +3 more
core   +3 more sources

Differential splicing of neuronal genes in a Trem2*R47H mouse model mimics alterations associated with Alzheimer\u27s disease. [PDF]

, 2023
BACKGROUND: Molecular characterization of late-onset Alzheimer\u27s disease (LOAD), the leading cause of age-related dementia, has revealed transcripts, proteins, and pathway alterations associated with disease.
Carter, Gregory W, Howell, Gareth R, Kotredes, Kevin P, Pandey, Ravi S, Sasner, Michael   +4 more
core   +2 more sources

Improving HER2 Diagnostics with Digital Real‐Time PCR for Ultrafast, Precise Prediction of Anti‐HER2 Therapy Response in Patients with Breast Cancer

Small Methods, Volume 10, Issue 3, 9 February 2026.
This study presents a novel, clinically feasible HER2 testing method using a fully automated digital real‐time PCR platform. It enables real‐time absolute quantification of ERBB2 copy number alterations for rapid, simple, and accurate assessment of HEgR2 status, thereby overcoming the limitations of conventional testing and improving prediction of anti‐
Hee‐Joo Choi, Soo Young Park, Minsik Song, Jinhyuk Chang, YoonSik Kim, Hosub Park, Chihwan David Cha, Sohyeon Yang, Nam Hun Heo, Min Ji Song, Da Sol Kim, Hayeon Kim, Minuk Kim, Jae Eun Park, Yesung Lee, EunChae Ji, Heekyoung Chung, Ilecheon Jeong, Mineui Hong, Jin‐Wu Nam, Mee‐Hye Oh, Ji‐Hye Lee, Jinwoo Seol, Hee‐Young Won, Hyun‐Woo Song, Jaewon Eom, Do Young Lee, Han Suk Ryu, Si‐Hyong Jang, Jeong‐Yeon Lee   +29 more
wiley   +1 more source