Results 61 to 70 of about 36,869 (295)

Non-invasive prenatal screening tests – update 2022

Journal of Laboratory Medicine, 2022
Since 2012, non-invasive prenatal testing (NIPT) using cell-free DNA from maternal plasma is applied all over the world as highly efficient first-line or contingent screening approach for trisomy 13, 18 and 21.
Kypri Elena, Ioannides Marios, Achilleos Achilleas, Koumbaris George, Patsalis Philippos, Stumm Markus   +5 more
doaj   +1 more source

A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development [PDF]

, 2011
Disorders of sex development (DSD) are congenital conditions where chromosomal, gonad or genital development is atypical. In a significant proportion of 46,XY DSD cases it is not possible to identify a causative mutation, making genetic counseling ...
AJ Notini, AJ Paige, AK Bednarek, Andrew Sinclair, D Wilhelm, DM Maatouk, E Sutton, Erin Turbitt, H Stoop, Jacqueline Hewitt, JH Ludes-Meyers, Leendert Looijenga, LH Looijenga, M Cools, M Cools, Martine Cools, MI Nunez, N Bouteille, PA Lee, Peter Koopman, R Hersmus, Remko Hersmus, RI Aqeilan, RI Aqeilan, RI Aqeilan, RI Aqeilan, S Del Mare, SJ White, SJ White, Stefan White, Stenvert Drop, Vincent Harley, Yvonne van der Zwan   +32 more
core   +1 more source

Single‐Nucleus Multi‐Omics Reveals Hypoxia‐Driven Angiogenic Programs and Their Epigenetic Control in Sinonasal Squamous Cell Carcinoma

Advanced Science, EarlyView.
Single‐nucleus multi‐omics profiling of sinonasal squamous cell carcinoma unveils a hypoxia‐driven angiogenic axis. A specific hypoxic tumor subpopulation orchestrates endothelial tip cell differentiation via epigenetically regulated ADM and VEGFA secretion.
Chaelin You, Jaewoo Park, Jung Yeon Jang, Junho Noh, Jaehyun Lee, Geunho Kwon, Myeong Sang Yu, Yoo‐Sam Chung, Seung‐Jun Lee, Keunsoo Kang, Jihwan Park, Ji Heui Kim, Kyuho Kang   +12 more
wiley   +1 more source

Cytogenetic findings in patients with intellectual disability and/or multiple congenital anomalies [PDF]

Journal of Analytical Research in Clinical Medicine, 2016
Introduction: Chromosomal abnormalities are a major etiology of intellectual disability (ID) and multiple congenital anomalies (MCAs). Screening for chromosomal aberrations by clinical diagnostic techniques has been primarily performed ...
Sima Derakhshan, Mahmoud Khaniani
doaj   +1 more source

Molecular monitoring of minimal residual disease in two patients with MLL-rearranged acute myeloid leukemia and haploidentical transplantation after relapse [PDF]

, 2012
This report describes the clinical courses of two acute myeloid leukemia patients. Both had MLL translocations, the first a t(10;11)(p11.2;q23) with MLL-AF10 and the second a t(11;19)(q23;p13.1) with MLL-ELL fusion.
Beyer, Jörg, Blau, Igor Wolfgang, Burmeister, Thomas, Friedrichs, Birte, Lachmann, Nils, Lohm, Gunnar, Marschalek, Rolf, Meyer, Claus, Molkentin, Mara, Schwartz, Stefan, Tietze-Bürger, Carola, Uharek, Lutz   +11 more
core   +1 more source

PTG‐Dependent Glycogen Metabolic Dysfunction Drives Impaired Adipose Browning: A Novel Mechanism Linking PM2.5 to Metabolic Disorders

Advanced Science, EarlyView.
This study provides the first evidence that PM2.5 impairs iWAT browning via PTG‐mediated glycogen metabolism disruption, which is initiated by ADRB3 inhibition and subsequently triggers VEGFB upregulation. It thereby delineates the ADRB3‐PTG‐VEGFB axis as central to PM2.5‐induced metabolic dysfunction and identifies adipose glycogen metabolism as a ...
Limin Wang, Renjie Hu, Yanxi Chai, Ping He, Sanduo Li, Lisha Zhao, Wenbin Zhao, Lu Zhang, Li Qin, Ran Li, Xiaoli Hou, Qinghua Sun, Cuiqing Liu   +12 more
wiley   +1 more source

Chromosomal aberrations in couples with pregnancy loss: A retrospective study

Journal of Human Reproductive Sciences, 2018
Background: Recurrent pregnancy loss is a challenging reproductive problem, and chromosomal anomalies approximately affect 2%–8% of couples with recurrent pregnancy loss.
Asoke K Pal, Prafulla S Ambulkar, Jwalant E Waghmare, Vandana Wankhede, Moreshwar R Shende, Aaditya M Tarnekar   +5 more
doaj   +1 more source

Clinical and molecular characterization of HER2 amplified-pancreatic cancer [PDF]

, 2013
<p>Background: Pancreatic cancer is one of the most lethal and molecularly diverse malignancies. Repurposing of therapeutics that target specific molecular mechanisms in different disease types offers potential for rapid improvements in outcome ...
Biankin, A.V., Chang, D.K., Chantrill, L., Chin, V., Chou, A., Cowley, M.J., Gill, A.J., Goldstein, D., Grimmond, S.M., Humphris, J., Johns, A.L., Kassahn, K.S., Mead, R., Miller, D.K., Morey, A.L., Musgrove, E.A., Nagrial, A.M., Nones, K., Pajic, M., Patch, A.M., Pearson, J.V., Pinese, M., Rooman, I., Samra, J.S., Toon, C.W., Waddell, N., Wasan, H., Wu, J.   +27 more
core   +3 more sources

CLinNET: An Interpretable and Uncertainty‐Aware Deep Learning Framework for Multi‐Modal Clinical Genomics

Advanced Science, EarlyView.
Identifying disease‐causing genes in neurocognitive disorders remains challenging due to variants of uncertain significance. CLinNET employs dual‐branch neural networks integrating Reactome pathways and Gene Ontology terms to provide pathway‐level interpretability of genomic alterations.
Ivan Bakhshayeshi, Mohammad Mahdi Hosseini, Ahmadreza Argha, Roxana Zahedi, Nigel H. Lovell, Hamid Alinejad‐Rokny   +5 more
wiley   +1 more source

Proteogenomic characterization of cholangiocarcinoma

Hepatology, EarlyView., 2022
Proteogenomic characterization of cholangiocarcinoma with therapeutic strategies Abstract Background and Aims Cholangiocarcinoma (CCA) is a highly heterogeneous cancer with limited understanding and few effective therapeutic approaches. We aimed at providing a proteogenomic CCA characterization to inform biological processes and treatment ...
Mengjie Deng, Peng Ran, Lingli Chen, Yunzhi Wang, Zixiang Yu, Ke Cai, Jinwen Feng, Zhaoyu Qin, Yanan Yin, Subei Tan, Yang Liu, Chen Xu, Guoming Shi, Yuan Ji, Jian‐Yuan Zhao, Jian Zhou, Jia Fan, Yingyong Hou, Chen Ding   +18 more
wiley   +1 more source