Results 71 to 80 of about 160,061 (270)

Structural Variations Associated with Adaptation and Coat Color in Qinghai‐Tibetan Plateau Cattle

Advanced Science, EarlyView.
This study reveals the landscape of structural variants in Qinghai‐Tibetan Plateau cattle through long‐read sequencing. Discoveries include metabolic and oxygen‐regulation gene variants, along with a 2‐Mb KIT‐containing inversion and translocations responsible for cattle gray coat. These findings highlight the significant role of structural variants in
Xiaoting Xia, Fuwen Wang, Xiaoyu Luo, Shuang Li, Yang Lyu, Yining Zheng, Zhijie Ma, Kaixing Qu, Rende Song, Jianyong Liu, Jicai Zhang, Basang Wangdui, Basang Zhuzha, Suolang Quji, Li Zhao, Silang Wangmu, Ciren Luobu, Nima Cangjue, Danzeng Luosang, Suolang Sizhu, Haijian Cheng, Ruizhe Li, Zhipeng Wu, Ruihua Dang, Yongzhen Huang, Xianyong Lan, Luohao Xu, Haifei Hu, WaiYee Low, Zhuqing Zheng, Yu Wang, Yuanpeng Gao, Lu Deng, Johannes A. Lenstra, Jianlin Han, Xueyi Yang, Wenfa Lyu, Bizhi Huang, Chuzhao Lei, Ningbo Chen   +39 more
wiley   +1 more source

Mitigating Cell Cycle Effects in Multi‐Omics Data: Solutions and Analytical Frameworks

Advanced Science, EarlyView.
The study highlights the cell‐cycle effects on multi‐omics analysis attributed to varying cell cycle compositions across cell types. To minimize the influence, we propose RTD correction in CNV calling with a high S‐phase ratio, and phase comparison in chromatin accessibility, DNA methylation, and transcriptomics.
Rui Nie, Caihong Zheng, Likun Ren, Yue Teng, Yaoyu Sun, Lifei Wang, Junya Li, Jun Cai   +7 more
wiley   +1 more source

Analysis of the breakpoint cluster region in essential thrombocythemia.

Haematologica, 1990
Essential thrombocythemia (ET) is a myeloproliferative disorder characterized by a platelet count higher than 1000 x 10(9)/l. Bone marrow karyotype aberrations are occasionally observed. The presence of cytogenetic and molecular markers of chronic myeloid leukemia (CML) was assessed in 25 patients with the clinical features of ET.
Corradini P, PALUMBO, Antonio, Battaglio S, Ponzio G, BOCCADORO, Mario, PILERI, Alessandro   +5 more
openaire   +4 more sources

Multicluster Distributed Optimization Strategy for Turbine Wake Environment

Advanced Intelligent Systems, EarlyView.
This article studies the wake analysis of wind farms in different aspects, including basic methods, clustering optimization, and wake optimization. Through multiclustering, the wake optimization in a specific wind farm environment is explored. And focusing on the time cost and other issues that need to be solved in practical applications, targeted ...
Zhenping Yu, Xinmeng Zhou, Yedong Huang, Kunyu Zhou, Guangming Cui, Juntian Qu   +5 more
wiley   +1 more source

Molecular, Cytogenetic, and Hematological Monitoring and Response to Treatment for Chronic Myeloid Leukemia Patients [PDF]

Al-Anbar Medical Journal
Background: A genetic abnormality in chronic myeloid leukemia (CML) involves a translocation between the long arms of chromosomes 9 and 22, known as t(9;22)(q34;q11.2), resulting in the Philadelphia chromosome (Ph).
Noor Al-Huda Bahar, Mushtak Al-Ouqaili, Nabeel Talib   +2 more
doaj   +1 more source

Compound Heterozygous Variants in ZSWIM7 Gene Linked to Infertility and Its Role in Gonadal Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini, Guilherme Pinn, Thainá Vilella, Maria I. Melaragno, Mariana Moysés‐Oliveira, Luciano Pompei, Rare Genomes Project Consortium, Bianca Bianco, Caio P. Barbosa   +8 more
wiley   +1 more source

Dasatinib-induced massive left chylothorax in a patient with chronic myeloid leukemia

Respiratory Medicine Case Reports, 2022
Dasatinib, an effective second-generation tyrosine kinase inhibitor, is used to treat breakpoint cluster region-Ableson-positive chronic myeloid leukemia or Philadelphia chromosome-positive acute lymphocytic leukemia.
Go Makimoto, Mahito Misawa, Yoshinobu Maeda, Katsuyuki Kiura   +3 more
doaj  

Site-specific DNA cleavage within the MLL breakpoint cluster region induced by topoisomerase II inhibitors.

Blood, 1996
The MLL gene located at 11q23 is frequently disrupted by chromosomal translocation in a wide spectrum of newly diagnosed acute leukemias. Recently, it has become apparent that the MLL gene is very frequently disrupted by chromosomal translocations in ...
P. Aplan, D. Chervinsky, Martin Stanulla, W. Burhans   +3 more
semanticscholar   +1 more source

Long‐Read Whole‐Genome Sequencing Uncovers a Deletion Upstream to HOXD13 Causing Synpolydactyly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Synpolydactyly (SPD) is a heterogeneous distal‐limb malformation syndrome, characterized by webbing and duplication of adjacent digits. SPD1, the most common type, is attributed to disease‐causing variants in HOXD13, a transcription factor in the HOXD cluster that is essential for limb development. Here, we present a challenging exome‐negative
Jonathan Rips, Rivka Birnbaum, Chaim Jalas, Ayala Frumkin, Shamir Zenvirt, Julia Rachanaev, Avraham Shaag, Tamar Harel, Orly Elpeleg, Hagar Mor‐Shaked   +9 more
wiley   +1 more source

Resolving the Diagnostic Odyssey in Inherited Retinal Dystrophies Through Long‐Read Genome Sequencing

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Inherited retinal dystrophies (IRDs) inherited are visually disabling monogenic diseases with remarkable genetic and phenotypic heterogeneity. Mutations in more than 300 different genes have been identified as disease‐causing. The genetic diagnosis of IRDs has significantly advanced with the integration of Next Generation Sequencing (NGS ...
Gerardo E. Fabian‐Morales, Vianey Ordoñez‐Labastida, William J. Rowell, Christine Lambert, Cairbre Fanslow, Alexander Robertson, Juan C. Zenteno   +6 more
wiley   +1 more source