Výsledky vyhledávání - "CRITICAL REGION"

Akademický článek

Evaluation of expression levels of microRNA processing elements in patients with sudden sensorineural hearing loss

Autor: Yalda Jabbari-Moghaddam, Dariush Shanehbandi, Milad Asadi, Saiedeh Razi-Soofiyani, Vahideh Hateftabar

Publikováno v: Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-6 (2024)

Abstract Background MicroRNAs have a significant role in the function and development of the hearing system. Idiopathic sudden sensorineural hearing loss (SSNHL) is a complicated disorder with no long-established reason. Since microRNAs play imperati

Externí odkaz: https://doaj.org/article/f5b453bf30c24a9facdfde696ae51947

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Akademický článek

HMSAM-UNet: A Hierarchical Multi-Scale Attention Module-Based Convolutional Neural Network for Improved CT Image Segmentation

Autor: Na Liu, Zhonghua Lu, Wenyong Lian, Min Tian, Chiyue Ma, Lijuan Peng

Publikováno v: IEEE Access, Vol 12, Pp 79415-79427 (2024)

While modern deep learning methods have made significant progress in medical image segmentation, some challenges remain, including accurately capturing features at multiple scales, limited ability to detect critical regions, and susceptibility to noi

Externí odkaz: https://doaj.org/article/093ef40b1ed2401eb459a1bc43190967

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Akademický článek

DiGeorge syndrome critical region gene 2 (DGCR2), a schizophrenia risk gene, regulates dendritic spine development through cell adhesion

Autor: Dongyan Ren, Bin Luo, Peng Chen, Lulu Yu, Mingtao Xiong, Zhiqiang Fu, Tian Zhou, Wen-Bing Chen, Erkang Fei

Publikováno v: Cell & Bioscience, Vol 13, Iss 1, Pp 1-14 (2023)

Abstract Background Dendritic spines are the sites of excitatory synapses on pyramidal neurons, and their development is crucial for neural circuits and brain functions. The spine shape, size, or number alterations are associated with neurological di

Externí odkaz: https://doaj.org/article/15a02c119e6b4ba6845b2c86bd578156

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Akademický článek

A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements

Autor: Jakob Schuy, Kristine Bilgrav Sæther, Jasmin Lisfeld, Marlene Ek, Christopher M. Grochowski, Ming Yin Lun, Alex Hastie, Susanne Rudolph, Sigrid Fuchs, Kornelia Neveling, Maja Hempel, Alexander Hoischen, Maria Pettersson, Claudia M.B. Carvalho, Jesper Eisfeldt, Anna Lindstrand

Publikováno v: Genetics in Medicine Open, Vol 2, Iss , Pp 101863- (2024)

Purpose: Although chromosome 21 is the smallest human chromosome, it is highly relevant in the pathogenicity of both cancer and congenital diseases, including Alzheimer disease and trisomy 21 (Down syndrome). In addition, cases with rare structural v

Externí odkaz: https://doaj.org/article/70b601806d7c45679087a28418058b52

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Akademický článek

Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype–phenotype association

Autor: Maria Chiara Pelleri, Chiara Locatelli, Teresa Mattina, Maria Clara Bonaglia, Francesca Piazza, Pamela Magini, Francesca Antonaros, Giuseppe Ramacieri, Beatrice Vione, Lorenza Vitale, Marco Seri, Pierluigi Strippoli, Guido Cocchi, Allison Piovesan, Maria Caracausi

Publikováno v: BMC Medical Genomics, Vol 15, Iss 1, Pp 1-12 (2022)

Abstract Background Down syndrome (DS) is caused by the presence of an extra copy of full or partial human chromosome 21 (Hsa21). Partial (segmental) trisomy 21 (PT21) is the duplication of only a delimited region of Hsa21 and can be associated or no

Externí odkaz: https://doaj.org/article/61a934a38f564fcf9c7c6365b4e867c6

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Akademický článek

Dose imbalance of DYRK1A kinase causes systemic progeroid status in Down syndrome by increasing the un-repaired DNA damage and reducing LaminB1 levelsResearch in context

Publikováno v: EBioMedicine, Vol 94, Iss , Pp 104692- (2023)

Summary: Background: People with Down syndrome (DS) show clinical signs of accelerated ageing. Causative mechanisms remain unknown and hypotheses range from the (essentially untreatable) amplified-chromosomal-instability explanation, to potential act

Externí odkaz: https://doaj.org/article/fccbd6f8ccf04865a74224623e30be79

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Akademický článek

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Akademický článek

3q29 microduplication syndrome: New evidence for the refinement of the critical region

Autor: Alessia Bauleo, Vincenza Pace, Alberto Montesanto, Laura De Stefano, Rossella Brando, Domenica Puntorieri, Luca Cento, Maurizio Genuardi, Elena Falcone

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 11, Iss 4, Pp n/a-n/a (2023)

Abstract Background The 3q29 microduplication syndrome is a rare genomic disorder characterized by an extremely variable neurodevelopmental phenotype usually involving a genomic region ranging from 1.6 to 1.76 Mb. A small microduplication of 448.8 Kb

Externí odkaz: https://doaj.org/article/4ca09283599448118613ae8470d61672

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