Results 61 to 70 of about 218,782 (270)

Chromosomal aberrations as a cause of infertility: diagnosis and genetic counseling in Las Tunas

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2017
Background: infertility is a clinical problem with a significant social medical impact on the health of the couple. It is considered that 36 % of the genetic causes of infertility are caused by chromosomal aberrations.Objective: to describe the results ...
Enelis Reyes Reyes, Nora María Orive Rodríguez, Glenys Katiuska Silva González, Lisset Romero Portelles, Ivette Díaz Plá   +4 more
doaj  

Heterozygous Deletion of the SHOX Gene Enhancer in two Females With Clinical Heterogeneity Associating With Skewed XCI and Escaping XCI

Frontiers in Genetics, 2019
Skewed X-chromosome inactivation (XCI) plays an important role in the phenotypic heterogeneity of X-linked disorders. However, the role of skewed XCI in XCI-escaping gene SHOX regulation is unclear.
Yixi Sun, Yixi Sun, Yixi Sun, Yuqin Luo, Yuqin Luo, Yuqin Luo, Yeqing Qian, Yeqing Qian, Yeqing Qian, Min Chen, Min Chen, Min Chen, Liya Wang, Liya Wang, Liya Wang, Hongge Li, Hongge Li, Hongge Li, Yu Zou, Minyue Dong, Minyue Dong, Minyue Dong   +21 more
doaj   +1 more source

Statistical model of intra-chromosome contact maps [PDF]

arXiv, 2013
The statistical properties of intra-chromosome maps obtained by a genome-wide chromosome conformation capture method (Hi-C) are described in the framework of the hierarchical crumpling model of heteropolymer chain with quenched disorder in the primary sequence.
arxiv  

Novel therapeutic targets in chronic myeloid leukaemia through a discrete time discrete Markov chain model of BCR-ABL1 interactions [PDF]

arXiv, 2020
Chronic Myeloid Leukaemia (CML) is a blood-derived proliferative disorder, which is highly associated to a translocation of chromosomes 9 and 22 or the creation of Philadelphia chromosome Ph(+) cases, inducing the synthesis of a chimeric fusion protein, namely BCR-ABL1 (Breakpoint Cluster Region-Abelson 1 chimeric protein), which is known for driving ...
arxiv  

Chromosome Oscillations in Mitosis [PDF]

, 2005
Successful cell division requires a tight regulation of chromosome motion via the activity of molecular motors. Many of the key players at the origin of the forces generating the movement have been identified, but their spatial and temporal organization remains elusive.
arxiv   +1 more source

On subcellular distribution of the zinc finger 469 protein (ZNF469) and observed discrepancy in the localization of endogenous and overexpressed ZNF469

FEBS Open Bio, EarlyView.
ZNF469 regulates the expression of genes encoding extracellular matrix proteins. Endogenous ZNF469 is predominantly cytoplasmic, while in transfected cells, it forms aggregates reminiscent of biomolecular condensates, located mainly in the nucleus. These condensates exhibit overlapping staining with proteasomes and are also associated with the mitotic ...
Anne Elisabeth Christensen Mellgren, Ileana Cristea, Thomas Stevenson, Endy Spriet, Per Morten Knappskog, Stig Ove Bøe, Harald Kranz, Sushma N. Grellscheid, Eyvind Rødahl   +8 more
wiley   +1 more source

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 135-143, January 2023., 2023
Abstract We describe the phenotype of 22 male patients (20 probands) carrying a hemizygous missense variant in MED12. The phenotypic spectrum is very broad ranging from nonspecific intellectual disability (ID) to the three well‐known syndromes: Opitz–Kaveggia syndrome, Lujan–Fryns syndrome, or Ohdo syndrome.
Nuno Maia, Nekane Ibarluzea, Mala Misra‐Isrie, Daniel C. Koboldt, Isabel Marques, Gabriela Soares, Rosário Santos, Carlo L. M. Marcelis, Riikka Keski‐Filppula, Miriam Guitart, Elisabeth Gabau Vila, April Lehman, Scott Hickey, Mari Mori, Paulien Terhal, Irene Valenzuela, Amaia Lasa‐Aranzasti, Anna Maria Cueto‐González, Brian H. Chhouk, Rebecca C. Yeh, Jennifer E. Neil, Bassam Abu‐Libde, Tjitske Kleefstra, Mariet W. Elting, Andrea Császár, Judit Kárteszi, Beáta Bessenyei, Hans van Bokhoven, Paula Jorge, Johanna M. van Hagen, Arjan P. M. de Brouwer   +30 more
wiley   +1 more source

Integrative genomics analysis identifies pericentromeric regions of human chromosomes affecting patterns of inter-chromosomal interactions [PDF]

arXiv, 2014
Genome-wide analysis of distributions of densities of long-range interactions of human chromosomes with each other, nucleoli, nuclear lamina, and binding sites of chromatin state regulatory proteins, CTCF and STAT1, identifies non-random highly correlated patterns of density distributions along the chromosome length for all these features.
arxiv  

Calcium modulating ligand confers risk for Parkinson's disease and impacts lysosomes

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Objective Several genetic loci known to confer risk for Parkinson's disease (PD) function in lysosomal pathways. We systematically screened common variants linked to PD risk by genome‐wide association studies (GWAS) for impact on cerebrospinal fluid (CSF) proteins reflecting lysosomal function.
Hanwen Zhang, Daniel Kargilis, Thomas Tropea, John Robinson, Junchao Shen, Eliza M. Brody, Ann Brinkmalm, Simon Sjödin, Adama J. Berndt, Marc Carceles‐Cordon, EunRan Suh, Vivianna M. Van Deerlin, Kaj Blennow, Daniel Weintraub, Edward B. Lee, Henrik Zetterberg, Alice S. Chen‐Plotkin   +16 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