Zobrazeno 1 - 10
of 17 815
pro vyhledávání: '"GENETIC-VARIANTS"'
Autor:
Christina Kiel, Fabiola Biasella, Heidi Stöhr, Philipp Rating, Georg Spital, Ulrich Kellner, Karsten Hufendiek, Cord Huchzermeyer, Herbert Jaegle, Klaus Ruether, Bernhard H. F. Weber
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024)
Abstract Inherited retinal dystrophies (IRDs) and inherited optic neuropathies (IONs) are characterized by distinct genetic causes and molecular mechanisms that can lead to varying degrees of visual impairment. The discovery of pathogenic variants in
Externí odkaz:
https://doaj.org/article/cf2e680a1c40414cb651066b9891dc27
Autor:
Asif Naveed Ahmed, Lettie E. Rawlins, Niamat Khan, Zakir Jan, Nishanka Ubeyratna, Nikol Voutsina, Arfa Azeem, Saadullah Khan, Emma L. Baple, Andrew H. Crosby, Shamim Saleha
Publikováno v:
BMC Neurology, Vol 24, Iss 1, Pp 1-11 (2024)
Abstract Background Hereditary motor and sensory neuropathy (HMSN) refers to a group of inherited progressive peripheral neuropathies characterized by reduced nerve conduction velocity with chronic segmental demyelination and/or axonal degeneration.
Externí odkaz:
https://doaj.org/article/00273e2104094d10a1cd9099b901bb64
Publikováno v:
The Egyptian Journal of Otolaryngology, Vol 40, Iss 1, Pp 1-19 (2024)
Abstract Background The diagnosis of auditory neuropathy spectrum disorder (ANSD) is based on the existence of cochlear microphonics or otoacoustic emissions, as well as aberrant or nonexistent-evoked auditory brainstem responses. The outcomes of coc
Externí odkaz:
https://doaj.org/article/050d4ca9b370489084df440a87d3e731
Autor:
Adar Yaacov, Gregory Lazarian, Tatjana Pandzic, Simone Weström, Panagiotis Baliakas, Samia Imache, Valérie Lefebvre, Florence Cymbalista, Fanny Baran-Marszak, Shai Rosenberg, Thierry Soussi
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024)
Abstract Intratumoral heterogeneity is an important clinical challenge because low burden clones expressing specific genetic alterations drive therapeutic resistance mechanisms. We have developed CAVE (cancer-associated variant enrichment), a gene-ag
Externí odkaz:
https://doaj.org/article/245ecc24d1874afcb302e97755ef1cba
Autor:
Elena I. Velikzhanina, Tatiana A. Sashina, Olga V. Morozova, Alexander Yu. Kashnikov, Natalia V. Epifanova, Nadezhda A. Novikova
Publikováno v:
Вопросы вирусологии, Vol 69, Iss 4, Pp 363-376 (2024)
Introduction. Rotavirus infection is the major cause of severe dehydrating diarrhea requiring hospitalization in young children worldwide. Due to their segmented genome, rotaviruses are capable of gene reassortment, which makes the emergence and spre
Externí odkaz:
https://doaj.org/article/0f0a8c36a6fa4f119bada6b6f7fbbd43
Autor:
Haifeng Feng, Shasha Huang, Ying Ma, Jinyuan Yang, Yijin Chen, Guojian Wang, Mingyu Han, Dongyang Kang, Xin Zhang, Pu Dai, Yongyi Yuan
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)
Abstract Background Hearing loss (HL) is the most common sensory birth deficit worldwide, with causative variants in more than 150 genes. However, the etiological contribution and clinical manifestations of X-linked inheritance in HL remain unclear w
Externí odkaz:
https://doaj.org/article/692e7f1966154a87b7be9644b1de4a3f
Autor:
Yu-Chin An, Kuo-Sheng Hung, Chih-Sung Liang, Chia-Kuang Tsai, Chia-Lin Tsai, Sy-Jou Chen, Yu-Kai Lin, Guan-Yu Lin, Po-Kuan Yeh, Fu-Chi Yang
Publikováno v:
The Journal of Headache and Pain, Vol 25, Iss 1, Pp 1-13 (2024)
Abstract Background Anti-calcitonin gene-related peptide (CGRP) monoclonal antibodies have emerged as promising therapeutic options for the treatment of chronic migraine. However, treatment response varies considerably among individuals, suggesting a
Externí odkaz:
https://doaj.org/article/1877751684d042a188b9f77f476ec004
Autor:
Nikita A. Plekhanov, Andrey V. Fedorov, Nadezhda B. Cheldyshova, Alina Yu. Kuratashvili, Svetlana P. Zadnova
Publikováno v:
Журнал микробиологии, эпидемиологии и иммунобиологии, Vol 101, Iss 4, Pp 520-529 (2024)
Introduction. The expression of the ctxAB and tcpA-F genes encoding the main pathogenicity factors of the Vibrio cholerae is controlled by regulatory genes. The structure of these genes has not been fully studied in the pathogen strains isolated duri
Externí odkaz:
https://doaj.org/article/9c0373db86ca4afea44ae70b8ad96ca4
Autor:
Iain R Konigsberg, Thao Vu, Weixuan Liu, Elizabeth M Litkowski, Katherine A Pratte, Luciana B Vargas, Niles Gilmore, Mohamed Abdel-Hafiz, Ani Manichaikul, Michael H Cho, Craig P Hersh, Dawn L DeMeo, Farnoush Banaei-Kashani, Russell P Bowler, Leslie A Lange, Katerina J Kechris
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-20 (2024)
Abstract Background Studies have identified individual blood biomarkers associated with chronic obstructive pulmonary disease (COPD) and related phenotypes. However, complex diseases such as COPD typically involve changes in multiple molecules with i
Externí odkaz:
https://doaj.org/article/21fb08f3af604e63b653fd7e059bb9fd
Autor:
Saranya Velmurugan, Rashmi Pauline, Gurudeva Chandrashekar, Langeswaran Kulanthaivel, Gowtham Kumar Subbaraj
Publikováno v:
Nigerian Postgraduate Medical Journal, Vol 31, Iss 2, Pp 93-101 (2024)
Age-related macular degeneration (AMD) is a prevalent and incurable condition affecting the central retina and posing a significant risk to vision, particularly in individuals over the age of 60. As the global population ages, the prevalence of AMD i
Externí odkaz:
https://doaj.org/article/c3bea508858343999ddeca109d638b81