Results 141 to 150 of about 7,568 (207)

Genetic Allee Effects for Controlling Invasive Populations. [PDF]

Mol Ecol
Nowell Nicolle L, Fournier-Level A, Robin C, Phillips BL.   +3 more
europepmc   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

INDIGENA: inductive prediction of disease-gene associations using phenotype ontologies. [PDF]

Bioinformatics
Zhapa-Camacho F, Hoehndorf R.
europepmc   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Inheritance patterns and heterosis of key floral traits in interspecific hybrids of <i>Clematis tientaiensis</i> × <i>C. lanuginosa</i>: implications for breeding compact cultivars. [PDF]

Front Plant Sci
Zeng X, Shi D, He S, Wei D, Liu Z.
europepmc   +1 more source

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

CNV-Hub: an integrated web-based platform for CNV classification and interpretation using multi-algorithm consensus. [PDF]

NAR Genom Bioinform
Pillay VGV, Mosca AL, Callegarin D, Marle N, Moro T, Opale M, Maaziz N, Egea G, Payet M, Ragon C, Mosnier J, Bouzenard A, Aho LS, Faivre L, Callier P.   +14 more
europepmc   +1 more source

One‐step generation of heritable mitochondrial DNA multiplex‐engineered rats using DddA‐derived cytosine base editor

Animal Models and Experimental Medicine, EarlyView.
We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang, Keru Li, Lei Tan, Wei Chen, Shan Gao, Chenyang Liu, Shuo Pan, Jiayue He, Ning Liu, Gefan Wan, Wei Dong, Weining Kong, Bin Shen, Xiaolong Qi, Yuanwu Ma   +14 more
wiley   +1 more source

Delta Power in SLC6A1-Related Neurodevelopmental Disorder: Operationalizing Quantitative EEG Metrics for Biomarker Development. [PDF]

Neurol Int
Dahshi H, Varnet M, Goodspeed K, Tiller J, Armstrong D, Sirsi D.   +5 more
europepmc   +1 more source

A preclinical mouse model mimicking the ovarian cancer‐induced estrogen deficiency‐depression axis

Animal Models and Experimental Medicine, EarlyView.
A preclinical mouse model of ovarian cancer–related depression was developed by combining intraperitoneal tumor cell injection, ovariectomy, and chronic restraint stress. The model replicates key clinical features including estrogen deficiency, depressive‐like behaviors, and tumor progression, and provides a reliable tool for studying the endocrine ...
Jiamin Liu, Yafei Yang, Chunxi Liu, Danting Wen, Tingyu Zhao, Ping Xie, Jing Xiao   +6 more
wiley   +1 more source