Results 181 to 190 of about 3,861,183 (367)

A balanced reciprocal translocation t(5;7)(q14;q32) associated with autistic disorder: Molecular analysis of the chromosome 7 breakpoint [PDF]

, 2001
Dmitri Tentler, Göran Brandberg, Catalina Betancur, Christopher Gillberg, Göran Annerén, Christina Orsmark, Eric D. Green, Birgit Carlsson, Niklas Dahl   +8 more
openalex   +1 more source

Dimer‐Specific FokT‐seq Reveals DNA‐Binding Dimerization and Novel Genomic Targets of TDP‐43

Advanced Science, EarlyView.
Loss of TDP‐43 dimerization is implicated in ALS, yet its mechanistic role remains elusive. This study introduces FokT, a novel system that restores TDP‐43 dimerization to map its DNA targets via FokT‐seq. The findings uncover key binding sites and offer a versatile tool for exploring dimer‐dependent transcriptional regulation.
Mingming Yang, Qi Wang, Ruolan Yan, Xiaochuan Wang, Jianlan Gu   +4 more
wiley   +1 more source

Skewed X-Chromosome Inactivation Is a Common Feature of X-Linked Mental Retardation Disorders [PDF]

, 2002
Robert M. Plenge, Roger Stevenson, Herbert A. Lubs, Charles E. Schwartz, Huntington F. Willard   +4 more
openalex   +1 more source

A gain-of-function mutation of JAK2 in myeloproliferative disorders.

New England Journal of Medicine, 2005
R. Kralovics, F. Passamonti, A. Buser, Soon-Siong Teo, R. Tiedt, J. Passweg, A. Tichelli, M. Cazzola, R. Skoda   +8 more
semanticscholar   +1 more source

Enhancer Reprogramming Reveals the Tumorigenic Role of PTPRZ1 in Lung Squamous Cell Carcinoma

Advanced Science, EarlyView.
Lung squamous cell cancer (LUSC) is deadly due to lack of good treatments. Here, multiomics techniques are applied to LUSC tumors and find thousands of cancer‐specific enhancers controlling key genes. Interestingly, the gene PTPRZ1 is identified as a critical oncogene driven by the LUSC‐acquired enhancers. PTPRZ1 is activated by MDK, fueling cancer via
Yong‐Qiang Ning, Jie Wang, Yihui Zhang, Hongrui Li, Zenan Jiang, Xinyu Su, Xiao Yang, Xiaoxuan Wu, Bing Wei, Jianmin Ying, Jian Yan, Wenbin Li   +11 more
wiley   +1 more source

A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16

, 2000
Enza Maria Valente
openalex   +1 more source

A Coding SNP in GmPM30 Enhances Soybean Salinity Tolerance and Yield through the GmLEA1‐GmPM30‐GmLEC1 Module

Advanced Science, EarlyView.
A natural variation in soybean PM30, GmPM30‐HapT, confers greater salt tolerance than GmPM30‐HapC via stronger GmLEA1‐GmPM30‐GmLEC1 interactions. Pyramiding their elite haplotypes yields additive gains in salt tolerance and yield, establishing a novel workflow linking evolutionary genomics, molecular mechanisms, and breeding applications via the module
Shiyu Huang, Yuhan Xia, Jingting Yang, Yujun Si, Xue Chen, Hao Zhang, Tianshi Liu, Wenyu Zheng, Xin Chen, Zhongjuan Zhao, Xiaojian Zheng, Qing Lu, Shuo Li, Fengning Xiang   +13 more
wiley   +1 more source

Isodicentric Y chromosome with SRY duplication in a female with complete gonadal dysgenesis. [PDF]

Mol Cytogenet
Salmaninejad A, Yaghoubi Z, Haghzad T, Latifi M, Bayat R, Esnaashari S, Dalili S.   +6 more
europepmc   +1 more source

Fibrodysplasia Ossificans Progressiva, a Heritable Disorder of Severe Heterotopic Ossification, Maps to Human Chromosome 4q27-31*

, 2000
George Feldman, Ming Li, Shelden Martin, Margrit Urbanek, Jon Andoni Urtizberea, Michel Fardeau, Martine LeMerrer, J. M. Connor, James T. Triffitt, Roger Smith, Maximilian Muenke, Frederick S. Kaplan, Eileen M. Shore   +12 more
openalex   +1 more source

Relationship between chromosomal changes complexity and disease aggressiveness in myeloid and lymphoid disorders [PDF]

, 2002
Agripina Lungeanu, Aurora Arghir, Anca Roxana Lupu, Delia Mut Popescu, Nicoleta Berbec   +4 more
openalex   +1 more source