Results 211 to 220 of about 6,270,911 (362)

Identification and Biological Evaluation of a Novel CLK4 Inhibitor Targeting Alternative Splicing in Pancreatic Cancer Using Structure‐Based Virtual Screening

Advanced Science, EarlyView.
Pancreatic cancer is a highly aggressive malignancy with limited treatment options. CLK4 regulates alternative splicing, contributing to cancer progression. This study establishes a computational model to identify CLK4 inhibitors, leading to compound 150441 (IC50: 21.4 nm).
Chun‐Lin Yang, Yi‐Wen Wu, Huang‐Ju Tu, Yun‐Hsuan Yeh, Tony Eight Lin, Tzu‐Ying Sung, Mu‐Chun Li, Shih‐Chung Yen, Jui‐Hua Hsieh, Ming‐Chin Yu, Sen‐Yung Hsieh, Hsing‐Pang Hsieh, Shiow‐Lin Pan, Kai‐Cheng Hsu   +13 more
wiley   +1 more source

Two SOX11 variants cause Coffin–Siris syndrome with a new feature of sensorineural hearing loss

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 183-189, January 2023., 2023
Abstract Coffin‐Siris syndrome (CSS, OMIM#135900) is a rare congenital disorder associated with neurodevelopmental and dysmorphic features. The primary cause of CSS is pathogenic variants in any of 9 BAF chromatin‐remodeling complex encoding genes or the genes SOX11 and PHF6. Herein, we performed whole‐exome sequencing (WES) and a series of analyses of
Qiuquan Wang, Jie Wu, Jinyuan Yang, Shasha Huang, Yongyi Yuan, Pu Dai   +5 more
wiley   +1 more source

INTERCHROMOSOMAL EFFECTS ON CROSSING OVER IN DROSOPHILA MELANOGASTER. II. A REEXAMINATION OF X CHROMOSOME INVERSION EFFECTS [PDF]

, 1963
David T Suzuki
openalex   +1 more source

Unveiling Multi‐Scale Architectural Features in Single‐Cell Hi‐C Data Using scCAFE

Advanced Science, EarlyView.
scCAFE is a deep learning framework designed to identify multi‐scale 3D genome architectural features from single‐cell Hi‐C data without dense imputation. It predicts chromatin loops, TAD‐like domains, and A/B compartments, enabling efficient characterization of organization at the single‐cell level. scCAFE also identifies marker loop anchors, offering
Fuzhou Wang, Jiecong Lin, Hamid Alinejad‐Rokny, Wenjing Ma, Lingkuan Meng, Lei Huang, Jixiang Yu, Nanjun Chen, Yuchen Wang, Zhongyu Yao, Weidun Xie, Ka‐Chun Wong, Xiangtao Li   +12 more
wiley   +1 more source

Further characterization of NFIB‐associated phenotypes: Report of two new individuals

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 540-545, February 2023., 2023
Abstract Nuclear Factor I B (NFIB) haploinsufficiency has recently been identified as a cause of intellectual disability (ID) and macrocephaly. Here we report on two new individuals carrying a microdeletion in the chromosomal region 9p23‐p22.3 containing NFIB.
Gemma Marinella, Eugenia Conti, Bianca Buchignani, Giada Sgherri, Rosa Pasquariello, Flavio Giordano, Paola Cristofani, Roberta Battini, Agatino Battaglia   +8 more
wiley   +1 more source

Cell-Type Specific Variation in X-Chromosome Dosage Compensation in Drosophila. [PDF]

MicroPubl Biol
Pal S, Oliver B, Przytycka TM.
europepmc   +1 more source

A Cytogenetic Demonstration of Crossing-Over Between X - and Y - Chromosomes in the Male Drosophila Melanogaster

, 1936
Curt Stern, Dorothy Doan
openalex   +2 more sources

Origins, Dispersal, and Impact: Bidirectional Introgression Between Chinese and European Pig Populations

Advanced Science, EarlyView.
This study investigates bidirectional introgression between Chinese and European pig populations, revealing 3558 introgressed genomic segments and 30 structural variations. Analysis of the BMP2 region suggests its role in body size enhancement. By integrating ancient and modern genomes, the study highlights the impact of introgression on genetic ...
Yibin Qiu, Langqing Liu, Min Huang, Donglin Ruan, Rongrong Ding, Zebin Zhang, Enqin Zheng, Shiyuan Wang, Shaoxiong Deng, Xianglun Meng, Xinyan Cheng, Jiaxin Shi, Yingshan Yang, Fuchen Zhou, Sixiu Huang, Huaqiang Yang, Zicong Li, Gengyuan Cai, Zhenfang Wu, Jie Yang   +19 more
wiley   +1 more source

Biallelic GTF2IRD1 variants in brothers with profound neurodevelopmental disorder: A possible novel disorder involving a critical gene for Williams syndrome

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 332-337, February 2023., 2023
Abstract GTF2IRD1, a gene on chromosome 7 which encodes a transcription factor, is of significant clinical interest due to its heterozygous loss as part of the classical deletion associated with Williams–Beuren syndrome (WBS). However, biallelic variants in GTF2IRD1 alone as part of an autosomal recessive disease have not been previously reported. Here,
Christopher Thomas Cummings, Lois Janelle Starr   +1 more
wiley   +1 more source

Dynamics of X chromosome hyper-expression and inactivation in male tissues during stick insect development. [PDF]

PLoS Genet
Djordjevic J, Tran Van P, Toubiana W, Labédan M, Dumas Z, Aury JM, Cruaud C, Istace B, Labadie K, Noel B, Parker DJ, Schwander T.   +11 more
europepmc   +2 more sources