< em > USH2A < /em > mutation and specific driver mutation subtypes are associated with clinical efficacy of immune checkpoint inhibitors in lung cancer
This study aimed to identify subtypes of genomic variants associated with the efficacy of immune checkpoint inhibitors (ICIs) by conducting systematic literature search in electronic databases up to May 31, 2021. The main outcomes including overall survival (OS), progression-free survival (PFS), objective response rate (ORR), and durable clinical benefit (DCB) were correlated with tumor genomic features. A total of 1546 lung cancer patients with available genomic variation data were included from 14 studies. The Kirsten rat sarcoma viral oncogene homolog G12C (KRASG12C) mutation combined with tumor protein P53 (TP53) mutat...
Source: J Zhejiang Univ Sci ... - February 8, 2023 Category: Science Authors: Dexin Yang Yuqin Feng Haohua Lu Kelie Chen Jinming Xu Peiwei Li Tianru Wang Dajing Xia Yihua Wu Source Type: research

< em > USH2A < /em > mutation and specific driver mutation subtypes are associated with clinical efficacy of immune checkpoint inhibitors in lung cancer
This study aimed to identify subtypes of genomic variants associated with the efficacy of immune checkpoint inhibitors (ICIs) by conducting systematic literature search in electronic databases up to May 31, 2021. The main outcomes including overall survival (OS), progression-free survival (PFS), objective response rate (ORR), and durable clinical benefit (DCB) were correlated with tumor genomic features. A total of 1546 lung cancer patients with available genomic variation data were included from 14 studies. The Kirsten rat sarcoma viral oncogene homolog G12C (KRASG12C) mutation combined with tumor protein P53 (TP53) mutat...
Source: J Zhejiang Univ Sci ... - February 8, 2023 Category: Science Authors: Dexin Yang Yuqin Feng Haohua Lu Kelie Chen Jinming Xu Peiwei Li Tianru Wang Dajing Xia Yihua Wu Source Type: research

< em > USH2A < /em > mutation and specific driver mutation subtypes are associated with clinical efficacy of immune checkpoint inhibitors in lung cancer
This study aimed to identify subtypes of genomic variants associated with the efficacy of immune checkpoint inhibitors (ICIs) by conducting systematic literature search in electronic databases up to May 31, 2021. The main outcomes including overall survival (OS), progression-free survival (PFS), objective response rate (ORR), and durable clinical benefit (DCB) were correlated with tumor genomic features. A total of 1546 lung cancer patients with available genomic variation data were included from 14 studies. The Kirsten rat sarcoma viral oncogene homolog G12C (KRASG12C) mutation combined with tumor protein P53 (TP53) mutat...
Source: J Zhejiang Univ Sci ... - February 8, 2023 Category: Science Authors: Dexin Yang Yuqin Feng Haohua Lu Kelie Chen Jinming Xu Peiwei Li Tianru Wang Dajing Xia Yihua Wu Source Type: research

< em > USH2A < /em > mutation and specific driver mutation subtypes are associated with clinical efficacy of immune checkpoint inhibitors in lung cancer
This study aimed to identify subtypes of genomic variants associated with the efficacy of immune checkpoint inhibitors (ICIs) by conducting systematic literature search in electronic databases up to May 31, 2021. The main outcomes including overall survival (OS), progression-free survival (PFS), objective response rate (ORR), and durable clinical benefit (DCB) were correlated with tumor genomic features. A total of 1546 lung cancer patients with available genomic variation data were included from 14 studies. The Kirsten rat sarcoma viral oncogene homolog G12C (KRASG12C) mutation combined with tumor protein P53 (TP53) mutat...
Source: J Zhejiang Univ Sci ... - February 8, 2023 Category: Science Authors: Dexin Yang Yuqin Feng Haohua Lu Kelie Chen Jinming Xu Peiwei Li Tianru Wang Dajing Xia Yihua Wu Source Type: research

< em > USH2A < /em > mutation and specific driver mutation subtypes are associated with clinical efficacy of immune checkpoint inhibitors in lung cancer
This study aimed to identify subtypes of genomic variants associated with the efficacy of immune checkpoint inhibitors (ICIs) by conducting systematic literature search in electronic databases up to May 31, 2021. The main outcomes including overall survival (OS), progression-free survival (PFS), objective response rate (ORR), and durable clinical benefit (DCB) were correlated with tumor genomic features. A total of 1546 lung cancer patients with available genomic variation data were included from 14 studies. The Kirsten rat sarcoma viral oncogene homolog G12C (KRASG12C) mutation combined with tumor protein P53 (TP53) mutat...
Source: J Zhejiang Univ Sci ... - February 8, 2023 Category: Science Authors: Dexin Yang Yuqin Feng Haohua Lu Kelie Chen Jinming Xu Peiwei Li Tianru Wang Dajing Xia Yihua Wu Source Type: research

< em > USH2A < /em > mutation and specific driver mutation subtypes are associated with clinical efficacy of immune checkpoint inhibitors in lung cancer
This study aimed to identify subtypes of genomic variants associated with the efficacy of immune checkpoint inhibitors (ICIs) by conducting systematic literature search in electronic databases up to May 31, 2021. The main outcomes including overall survival (OS), progression-free survival (PFS), objective response rate (ORR), and durable clinical benefit (DCB) were correlated with tumor genomic features. A total of 1546 lung cancer patients with available genomic variation data were included from 14 studies. The Kirsten rat sarcoma viral oncogene homolog G12C (KRASG12C) mutation combined with tumor protein P53 (TP53) mutat...
Source: J Zhejiang Univ Sci ... - February 8, 2023 Category: Science Authors: Dexin Yang Yuqin Feng Haohua Lu Kelie Chen Jinming Xu Peiwei Li Tianru Wang Dajing Xia Yihua Wu Source Type: research

< em > USH2A < /em > mutation and specific driver mutation subtypes are associated with clinical efficacy of immune checkpoint inhibitors in lung cancer
This study aimed to identify subtypes of genomic variants associated with the efficacy of immune checkpoint inhibitors (ICIs) by conducting systematic literature search in electronic databases up to May 31, 2021. The main outcomes including overall survival (OS), progression-free survival (PFS), objective response rate (ORR), and durable clinical benefit (DCB) were correlated with tumor genomic features. A total of 1546 lung cancer patients with available genomic variation data were included from 14 studies. The Kirsten rat sarcoma viral oncogene homolog G12C (KRASG12C) mutation combined with tumor protein P53 (TP53) mutat...
Source: J Zhejiang Univ Sci ... - February 8, 2023 Category: Science Authors: Dexin Yang Yuqin Feng Haohua Lu Kelie Chen Jinming Xu Peiwei Li Tianru Wang Dajing Xia Yihua Wu Source Type: research

< em > USH2A < /em > mutation and specific driver mutation subtypes are associated with clinical efficacy of immune checkpoint inhibitors in lung cancer
This study aimed to identify subtypes of genomic variants associated with the efficacy of immune checkpoint inhibitors (ICIs) by conducting systematic literature search in electronic databases up to May 31, 2021. The main outcomes including overall survival (OS), progression-free survival (PFS), objective response rate (ORR), and durable clinical benefit (DCB) were correlated with tumor genomic features. A total of 1546 lung cancer patients with available genomic variation data were included from 14 studies. The Kirsten rat sarcoma viral oncogene homolog G12C (KRASG12C) mutation combined with tumor protein P53 (TP53) mutat...
Source: J Zhejiang Univ Sci ... - February 8, 2023 Category: Science Authors: Dexin Yang Yuqin Feng Haohua Lu Kelie Chen Jinming Xu Peiwei Li Tianru Wang Dajing Xia Yihua Wu Source Type: research

< em > USH2A < /em > mutation and specific driver mutation subtypes are associated with clinical efficacy of immune checkpoint inhibitors in lung cancer
This study aimed to identify subtypes of genomic variants associated with the efficacy of immune checkpoint inhibitors (ICIs) by conducting systematic literature search in electronic databases up to May 31, 2021. The main outcomes including overall survival (OS), progression-free survival (PFS), objective response rate (ORR), and durable clinical benefit (DCB) were correlated with tumor genomic features. A total of 1546 lung cancer patients with available genomic variation data were included from 14 studies. The Kirsten rat sarcoma viral oncogene homolog G12C (KRASG12C) mutation combined with tumor protein P53 (TP53) mutat...
Source: J Zhejiang Univ Sci ... - February 8, 2023 Category: Science Authors: Dexin Yang Yuqin Feng Haohua Lu Kelie Chen Jinming Xu Peiwei Li Tianru Wang Dajing Xia Yihua Wu Source Type: research

Static Perimetry in the Rate of Progression in USH2A-related Retinal Degeneration (RUSH2A) Study: Assessment through Two Years
Disease-causing variants in the USH2A gene are among the most common causes of photoreceptor degeneration, either with congenital hearing loss (Usher syndrome type 2, USH2) or as nonsyndromic autosomal recessive retinitis pigmentosa (ARRP). Because the USH2A gene exceeds the carrying capacity of adeno-associated viral (AAV) vectors that have received regulatory approval for RPE65-related retinal degeneration,1-3 treatments for USH2A-related USH2 and ARRP have been more challenging than other autosomal recessive retinal degenerations to deliver. (Source: American Journal of Ophthalmology)
Source: American Journal of Ophthalmology - February 8, 2023 Category: Opthalmology Authors: Jacque L. Duncan, Peiyao Cheng, Maureen G. Maguire, Allison A. Ayala, David G. Birch, Janet K. Cheetham, Todd A. Durham, Abigail T. Fahim, Carel B. Hoyng, Hiroshi Ishikawa, Michel Michaelides, Mark E. Pennesi, Jos é Alain-Sahel, Katarina Stingl, Christin Tags: Original Articles Source Type: research

USH2A mutation and specific driver mutation subtypes are associated with clinical efficacy of immune checkpoint inhibitors in lung cancer
This study aimed to identify subtypes of genomic variants associated with the efficacy of immune checkpoint inhibitors (ICIs) by conducting systematic literature search in electronic databases up to May 31, 2021. The main outcomes including overall survival (OS), progression-free survival (PFS), objective response rate (ORR), and durable clinical benefit (DCB) were correlated with tumor genomic features. A total of 1546 lung cancer patients with available genomic variation data were included from 14 studies. The Kirsten rat sarcoma viral oncogene homologG12C (KRASG12C) mutation combined with tumor protein P53 (TP53) mutati...
Source: Journal of Zhejiang University. Science. B. - February 1, 2023 Category: Universities & Medical Training Source Type: research

Genes, Vol. 14, Pages 254: Towards a Cure for HARS Disease
einemann Histidyl-tRNA synthetase (HARS) ligates histidine to its cognate transfer RNA (tRNAHis). Mutations in HARS cause the human genetic disorders Usher syndrome type 3B (USH3B) and Charcot-Marie-Tooth syndrome type 2W (CMT2W). Treatment for these diseases remains symptomatic, and no disease specific treatments are currently available. Mutations in HARS can lead to destabilization of the enzyme, reduced aminoacylation, and decreased histidine incorporation into the proteome. Other mutations lead to a toxic gain-of-function and mistranslation of non-cognate amino acids in response to histidine codons, which can be re...
Source: Genes - January 18, 2023 Category: Genetics & Stem Cells Authors: Sarah D. P. Wilhelm Rosan Kenana Yi Qiu Patrick O ’Donoghue Ilka U. Heinemann Tags: Review Source Type: research

Ocular Manifestations in Patients with Sensorineural Hearing Loss
J Ophthalmic Vis Res. 2022 Nov 29;17(4):551-573. doi: 10.18502/jovr.v17i4.12321. eCollection 2022 Oct-Dec.ABSTRACTIdentification of ocular manifestations in patients with sensorineural hearing loss (SNHL) can have a large impact on the outcome and treatment of pediatric patients. Due to the common co-incidence of ocular manifestations and SNHL in children, both ophthalmologic and hearing loss screening and routine examinations must be conducted to minimize adverse outcomes and worsening of pathology. Early evaluation and diagnosis is imperative for intervention and further development of the patient. Co-incidence requires ...
Source: Journal of Ophthalmic and Vision Research - January 9, 2023 Category: Opthalmology Authors: Haniah A Zaheer Deepika C Parameswarappa Myra A Zaheer Jay Chhablani Preeti Patil-Chhablani Source Type: research