Results 121 to 130 of about 19,235 (265)

Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2 [PDF]

, 2008
Carolien M. Kets, Nicoline Hoogerbrugge, Joannes H.J.M. Van Krieken, Monique Goossens, Han G. Brunner, Marjolijn J. L. Ligtenberg   +5 more
openalex   +1 more source

Adenylyl Cyclase 8 in Dorsal CA1 Neurons Prevents Depressive‐Like Behaviors by Maintaining Neuronal Excitability and Glutamatergic Neurotransmission Through TIP39‐PTH2R Signaling

Advanced Science, EarlyView.
Depression, a prevalent neuropsychiatric disorder with unclear pathogenesis, involves dysfunctional adenylyl cyclase 8 (Adcy8) as a key risk factor. Chronic stress selectively reduces Adcy8 expression in the dorsal CA1 (dCA1) neurons. Depletion of Adcy8 in dCA1 excitatory neurons induces depressive‐like behaviors by impairing neuronal excitability and ...
Zi‐Jie Liu, Jia‐Rui Bi, Zong‐Yan Yu, Meng Tian, Zhi‐Yue Chen, Ran Wei, Miao‐Miao Wang, Hai‐Wei Zha, Yu‐Qing Zhang, Hong‐Jing Wang, Bang‐You Qiang, Shuang‐Shuang Sun, Xiao‐Juan Zhu, Wen‐Bing Chen, Dong Sun   +14 more
wiley   +1 more source

Bardet-Biedl syndrome caused by compound heterozygosity in BBS12 gene: a case report of one family with three affected members. [PDF]

Front Pediatr, 2023
Simičić Majce A, Tudor D, Simunovic M, Todorovic M, Parlov M, Lozic B, Saraga-Babić M, Saraga M, Arapović A.   +8 more
europepmc   +1 more source

Schwartz-Jampel Syndrome Type-1: Compound Heterozygosity of Two Novel Variants

Journal of Clinical Research in Pediatric Endocrinology
Schwartz-Jampel Syndrome (SJS) type-1 (OMIM; #255800), a rare cause of skeletal dysplasia, is characterized by myotonic myopathy, chondrodystrophy, short stature, facial and eye abnormalities. SJS Type-1 develops due to variations in the HSPG2 gene which produces the "perlecan" molecule, one of the main proteoglycans of the basement membrane.
Fatma Güliz, Atmaca, Özlem, Akgün Doğan, Büşra, Kutlubay, Heves, Kırmızıbekmez   +3 more
openaire   +2 more sources

The Mitochondrial Guardian α‐Amyrin Mitigates Alzheimer's Disease Pathology via Modulation of the DLK‐SARM1‐ULK1 Axis

Advanced Science, EarlyView.
Dietary habits play a key role in chronic diseases, and higher annual consumption of fruit and vegetable may lower risk of dementia. Artificial intelligence predicts the lipid‐like compound α‐Amyrin (αA) from plants with edible peels as a drug candidate against Alzheimer's disease.
Shu‐Qin Cao, Juan Ignacio Jiménez‐Loygorri, Yunguang Qiu, You Jung Kang, Khanh Van Do, Annabel E. Smith, Junjie Huang, Jun‐ping Pan, Lipeng Mao, Ang Li, Hangge Yang, Yahyah Aman, Maria Jose Donate Lagartos, Sofie Hindkjær Lautrup, Anbin Chen, Kristina Xiao Liang, Hailong Zhang, Juan Yi, Xurui Jin, Tin Cho Cheung, Olympia Apokotou, Florentia Papastefanaki, Rebecca Matsas, William A. McEwan, Feixiong Cheng, Hansang Cho, Guobing Chen, Huanxing Su, Konstantinos Palikaras, Oscar Junhong Luo, Qian Hua Zhao, Ding Ding, Cornelia van Duijn, Nektarios Tavernarakis, Patricia Boya, Tewin Tencomnao, Evandro F. Fang   +36 more
wiley   +1 more source

Compound heterozygosity of non‐deletional hereditary persistence of fetal hemoglobin and δβ‐thalassemia [PDF]

, 2008
Angelos Kalamaras, Christos Chassanidis, Μαρία Σαμαρά, Manoussos N. Papadakis, Andromachi Vagena, Vassiliki Aleporou‐Marinou, George P. Patrinos, Panagoula Κollia   +7 more
openalex   +1 more source

Modulating Purothionin Accumulation and Signal Peptide Cleavage Fine‐Tunes Wheat Flour Gluten Properties to Improve Cookie‐Making Quality

Advanced Science, EarlyView.
Dual genetic strategies for improving wheat processing quality by regulating purothionin accumulation to modulate gluten quantity and quality. The first strategy involves targeting signal peptide (SP) cleavage sites (e.g., through mutation) to indirectly reduce gluten content, thereby disrupting gluten network formation.
Yijie Liu, Siyuan Chang, Zhaoheng Zhang, Tianqi Kang, Mingde Liu, Yuan Zong, Fei Ni, Yinguang Bao, Ruijie Zhang, Xiaobang Zhang, Jinkun Du, Mingming Xin, Zhaorong Hu, Jie Liu, Zhongfu Ni, Qixin Sun, Yingyin Yao   +16 more
wiley   +1 more source

C282Y/H63D Compound Heterozygosity Is a Low Penetrance Genotype for Iron Overload-related Disease. [PDF]

J Can Assoc Gastroenterol, 2022
Hasan SMM, Farrell J, Borgaonkar M.
europepmc   +1 more source

Disrupting the Formation of YAP Condensates Promotes the Activation of AMPKα to Inhibit the Progression of Primary Liver Cancer

Advanced Science, EarlyView.
This study systematically investigates the function and molecular mechanisms of YAP phase separation in multiple primary liver cancers. These findings provide novel insights into phase separation‐mediated primary liver cancer development and validate targeted disruption of this process as an effective therapeutic strategy for primary liver cancer ...
Shuang‐Zhou Peng, Jia‐Jia Liang, Yun‐Feng Zhan, Wei‐Xun Wu, Wan‐Li Xu, Xiao‐Kun Zhang, Li‐Jun Cai, Fu‐Quan Jiang   +7 more
wiley   +1 more source

Juvenile-onset multifocal atrial arrhythmias, atrial standstill and compound heterozygosity of genetic variants in TAF1A: sentinel event for evolving dilated cardiomyopathy-a case report. [PDF]

Eur Heart J Case Rep, 2023
Ter Bekke RMA, de Schouwer K, Conti S, Claes GRF, Vanoevelen J, Gommers S, Helderman-van den Enden ATJM, Brunner-LaRocca HP.   +7 more
europepmc   +1 more source