Results 151 to 160 of about 1,791,159 (252)

Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease

Clinical Genetics, EarlyView.
Whole‐exome sequencing of 111 patients with suspected familial cerebral small vessel disease (CSVD) identified novel copy number variants in four patients across NOTCH3, LMNB1, and COL4A2, using bioinformatic and molecular techniques. These validated CNVs suggest structural variation is an underrecognized potential causal contributor to monogenic CSVD ...
Solomon K. Guyler, Neven Maksemous, Rodney A. Lea, Robert A. Smith, Heidi G. Sutherland, Lyn R. Griffiths   +5 more
wiley   +1 more source

PSMF1 Variants in a German Parkinson's Disease Cohort

Movement Disorders, EarlyView.
Carolin Gabbert, Christoph Much, Alicia Wenghöfer, André Fienemann, Susen Schaake, Theresa Lüth, Max Borsche, Norbert Brüggemann, Christine Klein, Joanne Trinh   +9 more
wiley   +1 more source

A De Novo ATP1A3 p.Arg995His Variant in a Patient With an Adult‐Onset Primary Lateral Sclerosis‐Like Syndrome

Clinical Genetics, EarlyView.
A 43‐year‐old woman developed a progressive adult‐onset upper motor neuron syndrome fulfilling the clinical criteria for primary lateral sclerosis (PLS), with mild cerebellar involvement. Genetic testing identified a de novo ATP1A3 p.Arg995His variant affecting a highly conserved residue within the transmembrane M8 domain.
Pablo Hernandez‐Vitorique, Marta García de Burgos, Ana Campos Villegas, María José Gómez Heredia, Pilar Carbonell Corvillo   +4 more
wiley   +1 more source

Genetic testing in paediatric neurological disorders

Developmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba, Byoung Chan Lee, Shekeeb S. Mohammad, Katrina Fisk, Michael Buckley, Russell C. Dale, Tony Roscioli, Paediatric Neurogenomic Working Group, Manoj P. Menezes, Sachin Gupta, Christopher Troedson, Esther Tantsis, Richard Webster, Bruce Bennetts, Deepak Gill, Kavitha Kothur   +15 more
wiley   +1 more source

Long‐read sequencing‐based atlas of tissue‐specific expression of DNM1L transcript variants

The FEBS Journal, EarlyView.
Targeted long‐read sequencing resolves full‐length DNM1L (Drp1) isoforms and reveals conserved, tissue‐specific expression patterns across human and mouse tissues. Functional assays show that Drp1 isoforms differ in their ability to drive mitochondrial fission, independent of abundance, with specific exons modulating activity.
Feng Yan, Jafar S. Jabbari, Naomi X. L. Ling, Anne M. Kong, Jia Q. Truong, Marnie L. Maddock, Ayeshah A. Rosdah, Christopher G. Langendorf, Lifang Zhang, Jarmon G. Lees, Sebastian Bass‐Stringer, Danise Ann Onda, Alice Pébay, Mirella Dottori, Kim Loh, Jessica K. Holien, Sean Lal, Nadia M. Davidson, Jonathan S. Oakhill, Shiang Y. Lim   +19 more
wiley   +1 more source

Tankyrase‐2 regulates adipocyte differentiation through AMPK/mTOR signaling

The FEBS Journal, EarlyView.
Tankyrase 2 (TNKS2), a PARP family member, underpins adipocyte differentiation. TNKS2 controls LKB1 protein level, and consequently, the activity of the mTOR/AMPK system and adipocyte differentiation through a layered process. Pharmacological inhibition of TNKS2 leaves other PARPs and DNA repair active and therefore represents a novel target in ...
Boglarka Rauch, Gyula Ujlaki, Szilard Poliska, Nakayi Murahwa, Patrik Kovacs, Aladar Pettko‐Szandtner, Karen Uray, Peter Bai   +7 more
wiley   +1 more source

Advanced Molecular Analysis in Hemophilia A in a Single Step: Next Generation Sequencing (NGS) and Copy Number Variation (CNV) Analysis

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Background Hemophilia A, an X‐linked bleeding disorder caused by pathogenic variants in the F8 gene, requires precise genetic diagnosis for optimal management. Conventional stepwise sequence and copy number variation (CNV) analyses are time‐consuming and may leave some cases unresolved.
Enise Avci Durmusalioglu, Esra Isik, Basak Durmus Ozen, Mehmet Mert Topaloglu, Nihal Karadas, Kaan Kavakli, Melike Sezgin Evim, Tolga Aslan, Erşen Kavak, Adalet Meral Gunes, Funda Tayfun Kupesiz, Alphan Kupesiz, Fahri Sahin, Tahir Atik   +13 more
wiley   +1 more source

Genomic variation drives plant flavor diversification

Journal of Integrative Plant Biology, EarlyView.
This review explains how genomic variation shapes plant flavor by altering the biosynthetic and regulatory pathways of key attributes like sweetness, acidity, bitterness, piquancy, astringency, and aroma. It also discusses how multi‐omics, AI‐assisted breeding, and gene editing can translate this knowledge into plants with improved flavor, nutrition ...
Huimin Hu, Yanwei Hao, Yiwei Zhou, Xia Zhang, Rui Xia, Pan Liao   +5 more
wiley   +1 more source

RING E3 ligase SNIPER8 functions redundantly with three close homologs to regulate the turnover of transcriptional co‐repressor TPR1

Journal of Integrative Plant Biology, EarlyView.
The Arabidopsis E3 ligase SNIPER8 negatively regulates immunity by promoting ubiquitination and proteasomal degradation of the transcriptional corepressor TOPLESS‐RELATED1, limiting excessive immune responses, maintaining immune homeostasis, and balancing defense activation and normal plant growth.
Xueru Liu, Paul Kapos, Zhongshou Wu, Yujun Peng, Meixuezi Tong, Asana Khajavi, Yan Huang, Yuelin Zhang, Xin Li   +8 more
wiley   +1 more source

Natural variation in GmSOP5 regulates seed oil and protein content during soybean domestication

Journal of Integrative Plant Biology, EarlyView.
The domestication‐related gene Seed Oil and Protein 5 regulates seed oil and protein content without a yield penalty, providing insight into early soybean domestication and identifying a genetic pathway that balances the trade‐off between seed quality and yield in soybean.
Yu Tian, Hao Zhang, Zihao Zheng, Delin Li, Jindong Li, Yingpu Che, Xing Li, Changjiang Li, Huawei Gao, Long Yan, Chaosen Zhao, Jiantao Guan, Jianan Han, Qi Wang, Shiyu Guo, Dong Bai, Jochen C. Reif, Ying‐Hui Li, Li‐Juan Qiu   +18 more
wiley   +1 more source