Results 171 to 180 of about 308,350 (333)

Monkeys mutant for PKD1 recapitulate human autosomal dominant polycystic kidney disease [PDF]

, 2019
Tomoyuki Tsukiyama, Kenichi Kobayashi, Masataka Nakaya, Chizuru Iwatani, Yasunari Seita, Hideaki Tsuchiya, Jun Matsushita, Kahoru Kitajima, Ikuo Kawamoto, Takahiro Nakagawa, Koji Fukuda, Teppei Iwakiri, Hiroyuki Izumi, Iori Itagaki, Shinji Kume, Hiroshi Maegawa, Ryuichi Nishinakamura, Saori Nishio, Shinichiro Nakamura, Akihiro Kawauchi, Masatsugu Ema   +20 more
openalex   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Heterozygous Pathogenic Variant inDACT1Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome

, 2017
Bryn D. Webb, Sanjeeva Metikala, Patricia G. Wheeler, Mingma D. Sherpa, Sander M. Houten, Marko E. Horb, Eric E. Schadt   +6 more
openalex   +1 more source

Neonatal seizures: Advances in diagnosis and management

Epilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz, Ronit M. Pressler, Eli M. Mizrahi   +2 more
wiley   +1 more source

Distinctive genetic architecture of infantile epileptic spasms syndrome compared to self‐limited infantile epilepsy by trios whole‐exome sequencing

Epilepsia Open, EarlyView.
Abstract Objective Infantile epileptic spasms syndrome (IESS) and self‐limited infantile epilepsy (SeLIE) are both genetically heterogeneous disorders during infancy with distinct prognoses. To better define the genetic spectrum of IESS, we performed a comparative genetic analysis using SeLIE cases as a reference group. Methods We performed whole‐exome
Yihong Sun, Ningning Chen, Congjie Chen, Weitian Lu, Qian Wan, Tingsong Li, Yupeng Cun   +6 more
wiley   +1 more source

Autosomal Dominant Osteopetrosis - Identification of a New Mutation. [PDF]

Eur J Case Rep Intern Med
Monteiro I, Moutinho-Pereira S, Kornak U, Carneiro L.   +3 more
europepmc   +1 more source

Polycystin 2 is increased in disease to protect against stress-induced cell death [PDF]

, 2020
Brill, Allison L., Campbell, Stuart G., Cantley, Lloyd G., Chung, Hee Jung, Ehrlich, Barbara E., Fischer, Tom T., Johnson, Eric K., Marlier, Arnaud, Moeckel, Gilbert, Nerbonne, Jeanne M., Robert, Marie E., Sewanan, Lorenzo R., Walters, Jennifer M., Wilson, Parker C.   +13 more
core   +1 more source

Anhidrotic ectodermal dysplasia: autosomal dominant inheritance with palate and lip anomalies. [PDF]

, 1968
Robert Rapp, William E. Hodgkin
openalex   +1 more source

EGR1 Nuclear Condensates Promote Renal Cyst Development in Polycystic Kidney Disease

Exploration, EarlyView.
ABSTRACT Autosomal dominant polycystic kidney disease (ADPKD) is marked by aberrant cell proliferation driven by cAMP‐PKA and MAPK signaling pathways. EGR1, a transcription factor directly activated by the above two pathways, is critical in the over‐proliferation of tumor cells, which share similarities with cystic epithelial cells in ADPKD. This study
Chaoqun Ren, Zhaoxu Wu, Min Li, Yaqin Du, Hong Zhou, Yazhu Quan, Mengyao Xiong, Yiming Wang, Zhiwei Qiu, Shuai Zhu, Xiaowei Li, Jinzhao He, Cai Gao, Hui Cai, Tingting Li, Baoxue Yang   +15 more
wiley   +1 more source

Autosomal dominant [PDF]

, 2020
openaire   +1 more source