Results 71 to 80 of about 41,338 (239)

Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR‐Gene Family

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Bladder exstrophy and epispadias complex (BEEC) is one of the most severe congenital malformations of the urogenital tract, significantly impacting continence, sexual function, and renal function. To date, the only recurrent genetic aberration identified is the 22q.11.2 microduplication, but several candidate regions and genes including ...
Agneta Nordenskjöld, Samara Alm, Jesper Eisfeldt, Jia Cao, Magnus Anderberg, Gillian Barker, Hans Matsson, Gundela Holmdahl, Anna Lindstrand, Kristina Lagerstedt‐Robinson   +9 more
wiley   +1 more source

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij, Emilie de Groot, Eleonora Orlandini, Willemijn M. Klein, Charlotte W. Ockeloen, Joyce M. Geelen   +5 more
wiley   +1 more source

Investigating the role of histone deacetylase HDAC4 in long-term memory formation : a thesis presented in partial fulfilment of the requirements for the degree of Doctor of Philosophy in Genetics at Massey University, Manawatu, New Zealand [PDF]

, 2016
Listed in 2017 Dean's List of Exceptional ThesesEpigenetic mechanisms are emerging as master regulators of cognitive abilities such as learning and memory.
Schwartz, Silvia
core  

The centrosomal deubiquitylase USP21 regulates Gli1 transcriptional activity and stability [PDF]

, 2016
USP21 is a centrosome-associated deubiquitylase (DUB) that has been implicated in the formation of primary cilia - crucial organelles for the regulation of the Hedgehog (Hh) signaling pathway in vertebrates. Here, we identify KCTD6 - a cullin-3 E3-ligase
Bertsoulaki, Erithelgi, Clague, Michael J., Cucchi, Danilo, DE SMAELE, Enrico, Heride, Claire, Rigden, Daniel J., Urbé, Sylvie   +6 more
core   +1 more source

Research progress on biomarkers of traumatic brain injury

Animal Models and Experimental Medicine, EarlyView.
Traumatic brain injury: From primary insult to secondary neuroinflammation and degeneration. Abstract Traumatic brain injury (TBI) is a common disorder of the nervous system and has become a leading cause of death and disability worldwide, imposing a substantial burden on patients and their social circles. Its main symptoms include dyskinesia, language
Xuting Shen, Si Cheng, Shuyi Chen, Mengyue Wang, Tangying Li, Weicheng Xu, Yifan Zhang, Ping Yuan, Lei Shi   +8 more
wiley   +1 more source

Ankyrin2 is essential for neuronal morphogenesis and long-term courtship memory in Drosophila

Molecular Brain, 2023
Dysregulation of HDAC4 expression and/or nucleocytoplasmic shuttling results in impaired neuronal morphogenesis and long-term memory in Drosophila melanogaster.
Silvia Schwartz, Sarah J Wilson, Tracy K Hale, Helen L Fitzsimons   +3 more
doaj   +1 more source

The SET and ankyrin domains of the secreted Legionella pneumophila histone methyltransferase work together to modify host chromatin

mBio, 2023
Legionella pneumophila is a bacterial pathogen ubiquitous in natural and man-made aquatic environments, where it replicates in protozoa. Its intracellular life cycle depends on the establishment of a Legionella-containing vacuole (LCV) where the bacteria
Monica Rolando, Ivy Yeuk Wah Chung, Caishuang Xu, Laura Gomez-Valero, Patrick England, Miroslaw Cygler, Carmen Buchrieser   +6 more
doaj   +1 more source

Comparative susceptibility of mosquito populations in North Queensland, Australia to oral infection with dengue virus. [PDF]

, 2014
Dengue is the most prevalent arthropod-borne virus, with at least 40% of the world's population at risk of infection each year. In Australia, dengue is not endemic, but viremic travelers trigger outbreaks involving hundreds of cases.
Anderson, Andrew F. van den Hurk, Armstrong, Armstrong, Beebe, Beebe, Bennett, Bosio, Chevillon, Elizabeth A. McGraw, Endersby, Failloux, Forrester, Francesca D. Frentiu, Frentiu, Gubler, Gubler, Gubler, Guzman, Halstead, Halstead, Hanna, Holmes, Holmes, Huber, Kien, Knox, Kyle, Lambrechts, Lambrechts, Moreira, Neff, Nigel W. Beebe, Parameswaran, Paupy, Rosen, Ross, Scott L. O'Neill, Tat Siong Ng, Thomas Walker, Van Den Hurk, Vasilakis, Vazeille-Falcoz, Warrilow, Xi, Ye, Yixin H. Ye, Yoon   +47 more
core   +2 more sources

ANK1 and EPB41 Variants and The Risk of Steroid‐Induced Osteonecrosis

Arthritis &Rheumatology, Accepted Article.
Objective Steroid‐induced osteonecrosis of the femoral head (SONFH) is a refractory skeletal disorder influenced by genetic and environmental factors. However, conclusive pathogenic genetic evidence remains elusive due to the limited exploration of rare damaging variants. In this study, we aimed to identify rare variants associated with SONFH.
Shengbao Chen, Xianmin Zhu, Zhongzhong Chen, Wei Chen, Hussam Alkaissi, Zeng Zhang, Yun Gao, Junhui Yin, Xiangtian Yu, Qiong Fu, Youshui Gao, Zhenzhong Zhu, Qianying Cai, Pengwei Zhang, Weibin Chen, Xin Zhao, Xiaojin Wu, Karel Pacak, Dongxu Jin, Chunde Bao, Zhengping Zhuang, Changqing Zhang   +21 more
wiley   +1 more source

Large Ankyrin repeat proteins are formed with similar and energetically favorable units.

PLoS ONE, 2020
Ankyrin containing proteins are one of the most abundant repeat protein families present in all extant organisms. They are made with tandem copies of similar amino acid stretches that fold into elongated architectures.
Ezequiel A Galpern, María I Freiberger, Diego U Ferreiro   +2 more
doaj   +1 more source