Results 111 to 120 of about 5,362,679 (291)

Illustration of breakpoint reads across SV boundaries.

, 2016
(a) A breakpoint Read rj whose right end matches perfectly first 4 nucleotides whether the remainder bases are mismatched with the reference. The guessing breakpoint can be inferred at the 4th base of the right end on rj; (b) The actual breakpoints of SV
Choun-Sea Lin (173375), Ming-Tsai Chan (3353498), Sheng-Yu Chuang (3353501), Jian-Wei Chen (452345), Yao-Ting Huang (2436382), Chuan-Kang Ting (3353495)   +5 more
core   +1 more source

Antifungal Breakpoints of Non-albicans Candida Clinical Isolates in Vitek-2 Compact

JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH, 2015
Sir, The incidence and diversity of infections caused by non-albicans Candida species (NAC) have shown a substantial increase in recent years. Given the growing number of susceptible patients with compromised immunity as a consequence of HIV infection, cancer chemotherapy and transplantation associated immunosuppression, NAC has emerged as an ...
Arunava Kali, Kunigal Srinivasaiah Seetha, Sreenivasan Srirangaraj   +2 more
openaire   +3 more sources

Clinical and Cytogenomic Characterization of Three Patients With Distal 1q43q44 Deletion: Twin Sisters With a de novo Deletion and a Patient With der(1)t(1;21)(q43;q22.3)mat

Journal of Clinical Laboratory Analysis, EarlyView.
Distal 1q43q44 deletions lead to a consistent neurodevelopmental phenotype characterized by microcephaly, corpus callosum abnormalities, and developmental delay. Despite differences in genomic architecture, overlapping deletions affecting dosage‐sensitive genes such as AKT3, HNRNPU, and ZBTB18 define the core phenotype.
Ma. Guadalupe Domínguez‐Quezada, Horacio Rivera, Luis E. Figuera, Patricio Barros‐Núñez, José Luis Castrillo, Carlos Córdova‐Fletes, Thania Alejandra Aguayo‐Orozco   +6 more
wiley   +1 more source

Chronic, Environmentally Relevant PM2.5 Exposure Exacerbates Metabolic Dysfunction‐Associated Steatotic Liver Disease and Early‐Stage Renal Dysfunction in a Rodent Model

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT While epidemiological studies link fine particulate matter (PM2.5) exposure to metabolic dysfunction‐associated steatotic liver disease (MASLD) and renal dysfunction, a translational gap exists, as most animal models utilize acute, high‐dose exposures that poorly reflect chronic, moderate‐level human scenarios.
Yi‐Siao Chen, Hugo You‐Hsien Lin, Chien‐Tzu Lin, Si‐Hua Huang, Ming‐Lun Yeh, Ming‐Lung Yu, Jin‐Ching Lee, Yao‐Chi Chung, Wei‐Ming Li, Ching‐Chia Li, Shiu‐Feng Huang, Chia‐Hung Yen   +11 more
wiley   +1 more source

Canadian impact of CLSI aminoglycoside breakpoint changes for selected gram-negative bacteria

Antimicrobial Stewardship & Healthcare Epidemiology
We evaluated the impact of recent revisions to the Clinical and Laboratory Standards Institute (CLSI) aminoglycoside breakpoints on susceptibility within Enterobacterales and Pseudomonas aeruginosa at a Canadian academic hospital.
Ellen Germaine Avery, Taylor Laughlin, Kevin Brown, Larissa M. Matukas, Elizabeth Leung   +4 more
doaj   +1 more source

Breakpoint definition in SyntenyMapper.

, 2014
Illustration of two breakpoints emerging at both ends of a translocated segment in genome A and in genome B (hatched box). By definition a breakpoint is constituted by two orthologous gene pairs and if , as shown in the boxes underneath the schema ...
Stefanie Kaufmann (5661139), Dmitrij Frishman (3652)   +1 more
core   +1 more source

Prevention of Early Onset of Breast Cancer With Ashwagandha

Molecular Carcinogenesis, EarlyView.
ABSTRACT Prevention of breast cancer is feasible because many risk factors for this malignancy are known (e.g., family history, reproductive factors, etc.). Medicinal plants and/or their bioactive phytochemicals are attractive for the prevention of early onset of breast cancer due to their generally favorable safety profile.
Eun‐Ryeong Hahm, Su‐Hyeong Kim, Shivendra V. Singh   +2 more
wiley   +1 more source

Disease‐Duration–Specific Percentiles for Prospective Subtyping of Parkinson's Disease: A PPMI‐Based Study

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Parkinson's disease (PD) is clinically heterogeneous, with variable progression rates that complicate clinical trial design. The data‐driven diffuse malignant (DM), intermediate (IM), and mild‐motor predominant (MMP) subtyping model has prognostic value but lacks disease duration–specific thresholds for prospective use in disease ...
Ahmed Negida, Nitai Mukhopadhyay, Brian D. Berman, Seyed‐Mohammad Fereshtehnejad, Matthew J. Barrett   +4 more
wiley   +1 more source

Genomic breakpoints and clinical features of MLL-TET1 rearrangement in acute leukemias

Haematologica, 2012
Recent rapid developments in new technology such as whole genome/exome sequencing have revealed that novel mutations in genes such as DNMT3A , IDH1 , IDH2 and TET2 contribute to the main process of leukemogenesis in patients with normal karyotype acute myeloid leukemia (AML).[1][1] Among these ...
Sang-Guk Lee, Sun Young Cho, Min Jin Kim, Seung Hwan Oh, Eun Hae Cho, Sanggyu Lee, Eun Jung Baek, Jung Hye Choi, Stefan K. Bohlander, Laurence Lode, Steven Richebourg, Hwi-Joong Yoon, Rolf Marschalek, Claus Meyer, Tae Sung Park   +14 more
openaire   +3 more sources

Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi‐omics

Movement Disorders, EarlyView.
Abstract Background Long‐read sequencing and multi‐omic analytical frameworks are increasingly being adopted in rare disease diagnostics. However, clinical workflows comprehensively integrating these methodologies remain uncommon. Objective This study aimed to assess the potential and limitations of integrating long‐read genomic, transcriptomic, and ...
Ugo Sorrentino, Melanie Brugger, Alice Saparov, Ivana Dzinovic, Philip Harrer, Sandy Lösecke, Kevork Derderian, Martin Pavlov, Robert Kopajtich, Holger Prokisch, Arcangela Iuso, Maria Mazurkiewicz‐Bełdzińska, Deike Weiss, Christina Ludwig, Miriam Abele, Julia Mergner, Juliane Winkelmann, Theresa Brunet, Michał Schinwelski, Elisabeth Graf, Katja Kloth‐Stachnau, Theresia Herget, Magdalena Krygier, Michael Zech   +23 more
wiley   +1 more source