Results 31 to 40 of about 88 (87)

Nominations of the Speech Process of Finnic Origin in the Russian Dialects of Karelia (Structural Aspect)

Известия Уральского федерального университета. Серия 2: Гуманитарные науки, 2023
This article analyses dialect lexemes recorded in the Russian dialects of Karelia, which genetically go back to the Finnic lexical fund and represent a fragment of the semantic field “A speaking person”.
Irina Alekseevna Kyurshunova
doaj   +1 more source

PlantGFM: A Genomic Foundation Model for Discovery and Creation of Plant Genes

Advanced Science, EarlyView.
A plant genomic foundation model pre‐trained on 12 species enables both accurate gene prediction and de novo gene design. Through AI‐human knowledge screening, seven designed sequences showed transcriptional activity in plants, with two expressing stable proteins—demonstrating the first DNA‐RNA‐protein expression of LLM‐generated genes in plants and ...
Changhao Li, Qizhe Zhang, Hanchen Chen, Kepeng Lin, Chengfang Luo, Mengying Yang, Wei Xu, Fan Yao, Jianbing Yan, Qing‐Yong Yang, Xuehai Hu   +10 more
wiley   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Presurgical magnetoencephalography‐derived network control metrics distinguish successful hippocampal resection vs sparing in temporal lobe epilepsy

Epilepsia, EarlyView.
Abstract Objective Surgical decision‐making in temporal lobe epilepsy (TLE) faces a critical challenge in determining whether the hippocampus can be safely spared during anterior temporal resection, particularly when surgery involves the language‐dominant hemisphere.
Guhan Seshadri NP, Himanshu Kumar, Neha Sara John, Andreas V. Alexopoulos, Richard C. Burgess, Hiroatsu Murakami, Balu Krishnan   +6 more
wiley   +1 more source

Kabelid vepsa Šimjärve piirkonnas (19. sajandi lõpp, 20. sajandi algus) [PDF]

Mäetagused
In recent decades, a significant number of works have been published in Russian ethnology, devoted to the study of various forms of religiosity of the population in direct connection with certain territories in different historical periods, which has ...
Irina Vinokurova
doaj   +1 more source

In Search of Toponymic Borders in Belozerye [PDF]

Вопросы ономастики, 2016
The article presents some results of the expedition aimed at documenting toponymic and lexical substratal data in the Lake Beloye area (Belozerye). The survey was carried out in the summer of 2015 in the south-western part of Belozersky District around ...
Ekaterina V. Zakharova, Anna A. Makarova, Irma I. Mullonen   +2 more
doaj   +1 more source

The Global Parkinson's Disease Genetics (GP2) Genome Browser

Movement Disorders, EarlyView.
Abstract Background Large‐scale sequencing initiatives have generated extensive genomic resources essential for variant interpretation, yet their effective use often requires bioinformatics expertise. To support identification of Parkinson's disease (PD) risk and disease‐causing variants, we developed an open‐access, summary‐level genomic data browser.
Zih‐Hua Fang, Riley H. Grant, Dan Vitale, Carlos F. Hernandez, Samantha Hong, Hampton L. Leonard, Mary B. Makarious, Lara M. Lange, Matthew Solomonson, Peter Heutink, Allison A. Dilliott, Kamalini Ghosh Galvelis, Mike A. Nalls, Andrew B. Singleton, Cornelis Blauwendraat, the Global Parkinson's Genetics Program (GP2)   +15 more
wiley   +1 more source

Genetic analysis of primary lung interdigitating dendritic cell sarcomas

The Journal of Pathology, EarlyView.
Abstract Interdigitating dendritic cell sarcomas (IDCSs) are rare tumors that commonly arise in the hematopoietic system and rarely outside. The genetic drivers of IDCS carcinogenesis are unknown; therefore, therapeutic options are limited. We investigated somatic gene mutations and copy‐number alterations (CNAs) in nine IDCSs arising in the lung by ...
Mikhail S Ermakov, Juliana Faria Filipe, Sylvia Eidenhammer, German Ott, Iris Halbwedl, Karl Kashofer, Helmut Popper   +6 more
wiley   +1 more source

Enhancement of immune checkpoint inhibitor efficacy by DHX58+ SELL+ T cells in advanced gastric cancer

VIEW, EarlyView.
We created a coculture system using patient‐derived organoids (PDOs) and tumor‐infiltrating lymphocytes (TILs) that mimics important interactions between PDOs and TILs in the presence of various ICIs. Our findings reveal that CD62L+ T cells, activated by CD44+ cancer stem cells (CSCs), facilitate tumor regression in samples sensitive to ICIs, which is ...
Jie Chen, Youdong Liu, Hongda Pan, Tianyi Cai, Mingde Zang, Xiaowen Liu, Ziwen Long, Xin Fan, Jun Lu, Fenglin Liu   +9 more
wiley   +1 more source