Results 101 to 110 of about 3,786,126 (364)

Prenatal Diagnosis of a Fetus with Partial Duplication and Deletion of Chromosome 18 Due to Maternal Pericentric Inversion 18

International Journal of Medical Students, 2022
The phenotype of structural chromosome 18 mutations is heterogenous, the clinical manifestations may range from mild to severe, they have been widely studied in the literature, however, there are few cases where two or more mutations are present in the ...
Manuel Alejandro Vásquez Salguero, Wilmar Saldarriaga Gil   +1 more
doaj  

CNV and nervous system diseases - what's new? [PDF]

, 2008
Several new genomic disorders caused by copy number variation (CNV) of genes whose dosage is critical for the physiological function of the nervous system have been recently identified.
Gu, W., Lupski, J. R.
core   +3 more sources

Exploring AAV‐Mediated Gene Therapy for Inner Ear Diseases: from Preclinical Success to Clinical Potential

Advanced Science, EarlyView.
Current preclinical studies of AAV‐mediated gene therapy explore different strategies based on the characteristics of inner ear diseases. For genetic hearing loss, approaches include the replacement of a “good gene,” removal of a “bad gene,” or direct correction of mutations through base editing.
Fan Wu, Wuhui He, Yun Xiao, Qiong Wu, Qing Zhang, Tiesong Zhang, Lei Xu, Xinyi Pang   +7 more
wiley   +1 more source

Down syndrome-recent progress and future prospects [PDF]

, 2009
Down syndrome (DS) is caused by trisomy of chromosome 21 (Hsa21) and is associated with a number of deleterious phenotypes, including learning disability, heart defects, early-onset Alzheimer's disease and childhood leukaemia.
Adams, Adayev, Ahn, Ait Yahya-Graison, Altafaj, Antonarakis, Arron, Aylward, Aylward, Bartel, Belichenko, Bercovich, Best, Bliss, Brault, Canfield, Canzonetta, Carothers, Clark, Contestabile, Costa, de Graaf, De Vita, Denoeud, Dowjat, Draheim, E. M.C. Fisher, Ermak, Ermak, F. K. Wiseman, Fernandez, Freeman, Fuentes, Gerstein, Glasson, Granholm, Granholm, Groet, Guidi, Gwack, Harashima, Hasle, Hassold, Hill, Holland, Holtzman, Holtzman, Hunter, Hunter, Izraeli, Janicki, Johannsen, K. A. Alford, Kiyoi, Klusmann, Kuhn, Lai, Lee, Liang, Loos, Lorenzi, Mart  nez de Lagr  n, Maslen, Meng, Moore, Morice, Morris, Morrison, Murthy, Necchi, Nistor, O'Doherty, O'Donovan, O'Nuallain, Olson, Park, Pearlson, Prandini, Richtsmeier, Ryoo, Sato, Seo, Sethupathy, Stefansson, Sultan, Sussan, Toso, Tybulewicz, V. L.J. Tybulewicz, Wahab, Walters, Wechsler, Wegiel, Weis, Williams, Woods, Yang   +96 more
core   +2 more sources

IncRNA‐ZFAS1, an Emerging Gate‐Keeper in DNA Damage‐Dependent Transcriptional Regulation

Advanced Science, EarlyView.
LncZFAS1 plays a crucial role during DNA damage response in mammalian cells. Loss of lncZFAS1 results in deficient DNA lesion removal and reduced cell viability. Mechanistically, lncZFAS1 modulates RNAPII phosphorylation and transcription and thereby promotes both GG‐NER and TC‐NER upon UV damage.
Jiena Liu, Qing Lu, Zixuan Fan, Jiahui Lin, Nan He, Xin Zhang, Zhaoya Han, Tingting Zhu, Zhenzhen Wu, Yingying Xu, Yuming Wang   +10 more
wiley   +1 more source

MAP7D2 is a brain expressing X-linked maternal imprinted gene in humans [PDF]

, 2011
Increasing evidence suggests imprinted genes influence mouse and human behaviors and cognitive functions. Unlike autosomal imprinted genes, X-linked imprinted genes are expressed in a sex-dependent manner because of male hemizygosity.
Akihiro Yachie, Yo Niida
core   +1 more source

Profiling allele-specific gene expression in brains from individuals with autism spectrum disorder reveals preferential minor allele usage. [PDF]

, 2019
One fundamental but understudied mechanism of gene regulation in disease is allele-specific expression (ASE), the preferential expression of one allele.
A Chess, A de la Chapelle, A Gimelbrant, A Hogart, A McKenna, A Mortazavi, AA Adegbola, AL Oberg, AM Veerappa, B DeVeale, B Howie, B Langmead, B Tycko, C Fuchsberger, C Gicquel, C Gregg, C Lee, CA de Leeuw, CCY Wong, Changhoon Lee, Cross-Disorder Group of the Psychiatric Genomics Consortium., D Kim, Daniel H. Geschwind, DH Geschwind, E Ben-David, E Eden, E Eden, E Gardiner, EH Cook Jr., Eleazar Eskin, EM Quinn, Eun Yong Kang, EY Kang, F Supek, GT Consortium, GV Kryukov, H Li, HA Scoles, I Iossifov, I Voineagu, J Cavaille, J Cavaille, J Grove, JC Darnell, JF Degner, JK Pickrell, KR Kukurba, M Elsabbagh, M Meguro-Horike, Michael J. Gandal, N Mukherjee, NN Parikshak, NN Parikshak, PH Sudmant, PS Bazeley, R Karlic, S Anders, S Kehr, S Kishore, S Nardone, S Purcell, Schizophrenia Working Group of the Psychiatric Genomics Consortium., SE Castel, SJ Sanders, SM Weyn-Vanhentenryck, T Hulsen, V Savova, Y Zhang, YE Wu   +68 more
core   +1 more source

Real‐Time Evolutionary Landscape of the Bronchial Epithelium and Corresponding Dynamic Immune Cell Alterations in Lung Squamous Cell Carcinogenesis

Advanced Science, EarlyView.
Lung squamous cell carcinoma (LUSC) is often preceded by sequential premalignant lesions with an increasing probability of malignant progression. Using single‐cell RNA sequencing, the dynamic cellular evolution from normal lung to LUSC tissues is delineated; clonal structure of premalignant and malignant epithelium is reveled; the conversion of immune ...
Baohong Luo, Yuting Luo, Sicheng Chen, Tiantian Yang, Bixia Liu, Xiting Liao, Xiaoke Zheng, Tian Tian, Jinxu Liu, Qinru Zhan, Xiaohua Situ, Zhongpeng Xie, Yanxia Wang, Zhe‐Sheng Chen, Honglei Chen, Zheng Yang, Zunfu Ke   +16 more
wiley   +1 more source

Cross-genetic determination of maternal and neonatal immune mediators during pregnancy. [PDF]

, 2018
BACKGROUND:The immune system plays a fundamental role in development during pregnancy and early life. Alterations in circulating maternal and neonatal immune mediators have been associated with pregnancy complications as well as susceptibility to ...
Ashwood, Paul, Croen, Lisa A, DeLorenze, Gerald N, Heuer, Luke S, Jones, Karen L, Kharrazi, Martin, Traglia, Michela, Van de Water, Judy, Weiss, Lauren A, Yolken, Robert   +9 more
core  

Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome.

American Journal of Psychiatry, 2014
OBJECTIVE Chromosome 22q11.2 deletion syndrome is a neurogenetic disorder associated with high rates of schizophrenia and other psychiatric conditions. The authors report what is to their knowledge the first large-scale collaborative study of rates and ...
Maude Schneider, M. Debbané, A. Bassett, E. Chow, W. Fung, M. V. D. van den Bree, M. Owen, K. Murphy, Maria Niarchou, W. Kates, K. Antshel, W. Fremont, D. McDonald-McGinn, R. Gur, E. Zackai, J. Vorstman, Sasja N. Duijff, P. Klaassen, A. Swillen, D. Gothelf, T. Green, Abraham Weizman, Thérèse Van Amelsvoort, L. Evers, E. Boot, V. Shashi, S. Hooper, C. Bearden, M. Jalbrzikowski, M. Armando, S. Vicari, D. Murphy, O. Ousley, L. Campbell, T. Simon, S. Eliez   +35 more
semanticscholar   +1 more source