Results 101 to 110 of about 388,485 (239)

GDC: Integration of Multi‐Omic and Phenotypic Resources to Unravel the Genetic Pathogenesis of Hearing Loss

Advanced Science, EarlyView.
Overview of the Genetic Deafness Commons (GDC), integrating data from the Chinese Deafness Genetics Consortium (CDGC) and 51 public databases. The GDC provides tools for variant search, functional predictions, and gene‐disease visualization, offering insights into 201 hearing loss genes and facilitating novel gene discovery and clinical applications ...
Hui Cheng, Xuegang Wang, Mingjun Zhong, Jia Geng, Wenjian Li, Kanglu Pei, Jing Wang, Lanchen Wang, Yu Lu, Jing Cheng, Fengxiao Bu, Huijun Yuan   +11 more
wiley   +1 more source

The nucleotide sequence of a human immnnoglobulin C-gamma-1 gene [PDF]

, 1982
We report the nucleotide sequence of a gene encoding the constant region of a human immnnoglobulin γ1 heavy chain (Cγ1). A comparison of this sequence with those of the Cγ2 and Cγ4 genes reveals that these three human Cγ genes share considerable homology
Berson, Bennett J., Ellison, Jay W., Hood, Leroy E.   +2 more
core  

Long‐Lasting Auditory and Vestibular Recovery Following Gene Replacement Therapy in a Novel Usher Syndrome Type 1c Mouse Model

Advanced Science, EarlyView.
This study shows that gene replacement therapy using the AAV2/Anc80L65 virus can successfully restore hearing and balance in Ush1c knockout mice. The treatment leads to lasting improvements in both auditory and vestibular functions, highlighting its potential as a therapeutic approach for genetic hearing loss and vestibular disorders in humans ...
Weinan Du, Jun Huang, Aizhen Zhang, Fangfang Zhao, Tianwen Chen, Quinn M. McDermott, Tony Zheng, Haibo Wang, Rongli Zhang, Xiaolin Zhang, Jerome Allison, Hong Zhu, Wu Zhou, Qing Yin Zheng   +13 more
wiley   +1 more source

Exome Sequencing Reveals the Genetic Architecture of Non‐syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene

Advanced Science, EarlyView.
Nonsyndromic orofacial clefts (NSOFCs) are the most common craniofacial defects. Exome sequencing of 214 sporadic cases sheds new light on its genetic architecture and identifies many candidate pathogenic variants. Furthermore, functional studies establish BOC as a novel causal gene and reveal an unusual two‐locus model of inheritance via the epistatic
Qing He, Min Yu, Yuhua Jiao, Yizhu Xu, Xuqin Liang, Wenbin Huang, Linping Xu, Yuxia Hou, Zhanping Ren, Beile Lyu, Zhenwei Qian, Pengpeng Liu, Jing Zhou, Huimei Huang, Chunyan Yin, Huaxiang Zhao, Yi Ding   +16 more
wiley   +1 more source

ExonSurfer: a web-tool to design primers at exon–exon junctions

BMC Genomics
Abstract Background Reverse transcription quantitative PCR (RT-qPCR) with intercalating dyes is one of the main techniques to assess gene expression levels used in basic and applied research as well as in diagnostics. However, primer design for RT-qPCR can be complex due to the high demands on primer quality.
Pablo Monfort-Lanzas, Elena Cristina Rusu, Lucia Parrakova, Cornelia A. Karg, Dorina-Elina Kernbichler, Dietmar Rieder, Peter Lackner, Hubert Hackl, Johanna M. Gostner   +8 more
openaire   +3 more sources

IncRNA‐ZFAS1, an Emerging Gate‐Keeper in DNA Damage‐Dependent Transcriptional Regulation

Advanced Science, EarlyView.
LncZFAS1 plays a crucial role during DNA damage response in mammalian cells. Loss of lncZFAS1 results in deficient DNA lesion removal and reduced cell viability. Mechanistically, lncZFAS1 modulates RNAPII phosphorylation and transcription and thereby promotes both GG‐NER and TC‐NER upon UV damage.
Jiena Liu, Qing Lu, Zixuan Fan, Jiahui Lin, Nan He, Xin Zhang, Zhaoya Han, Tingting Zhu, Zhenzhen Wu, Yingying Xu, Yuming Wang   +10 more
wiley   +1 more source

Integrating Dense Genotyping with High‐Throughput Phenotyping Empowers the Genetic Dissection of Berry Quality and Resilience Traits in Grapevine

Advanced Science, EarlyView.
Researchers develop advanced tools to study grapevine traits like berry quality and stress resilience. A 200K SNP array and high‐throughput phenotyping enable the identification of loci linked to berry shape, sugar content, acidity, and cold tolerance. Functional validation of genes such as NAC08 reveals roles in cold tolerance.
Yuyu Zhang, Yongjian Wang, Michael Henke, Pablo Carbonell‐Bejerano, Zemin Wang, Pierre‐François Bert, Yi Wang, Huayang Li, Junhua Kong, Peige Fan, Zhanwu Dai, Zhenchang Liang   +11 more
wiley   +1 more source

DNA‐PKcs‐Driven YAP1 Phosphorylation and Nuclear Translocation: a Key Regulator of Ferroptosis in Hyperglycemia‐Induced Cardiac Dysfunction in Type 1 Diabetes

Advanced Science, EarlyView.
In the context of chronic hyperglycemia, a DDR is initiated, leading to the pathological activation of DNA‐PKcs in the diabetic heart. This activated DNA‐PKcs directly interacts with and phosphorylates YAP1 at Thr226, thereby increasing the nuclear expression of YAP1.
Junyan Wang, Xing Chang, Chun Li, Jing Gao, Zhijiang Guo, Haowen Zhuang, Lingjun Wang, Yusheng Huang, Wei Wang, Chao Li, Qingyong He   +10 more
wiley   +1 more source

PacBio assembly of a Plasmodium knowlesi genome sequence with Hi-C correction and manual annotation of the SICAvar gene family. [PDF]

, 2018
Plasmodium knowlesi has risen in importance as a zoonotic parasite that has been causing regular episodes of malaria throughout South East Asia. The P. knowlesi genome sequence generated in 2008 highlighted and confirmed many similarities and differences
Ay, F, Batugedara, G, Chien, J-T, DeBARRY, JD, Galinski, MR, Geraldo, JA, Humphrey, J, Kissinger, JC, Lapp, SA, Le Roch, KG, MaHPIC consortium, Pakala, SB   +11 more
core  

Accurate Delivery of Mesenchymal Stem Cell Spheroids With Platelet‐Rich Fibrin Shield: Enhancing Survival and Repair Functions of Sp‐MSCs in Diabetic Wound Healing

Advanced Science, EarlyView.
Autologous plasma‐derived platelet‐rich fibrin (PRF) is prepared as a protective shield for mesenchymal stem cell spheroids (Sp‐MSCs). PRF forms a fibrin shield to protect Sp‐MSCs from the oxidative stress environment. The nutrients in PRF, particularly the α‐granules, can enhance the repair function of Sp‐MSCs.
Jinglve Zhang, Wenqing Xu, Yutian Xiao, Dingheng Su, Yusheng He, Huohong Yang, Yixin Xie, Xiaofang Wang, Ren‐He Xu, Shaorong Lei, Dingyu Wu   +10 more
wiley   +1 more source