Results 181 to 190 of about 407,038 (348)

PCSK9 Promotes the Malignancy of Triple‐negative Breast Cancer Cells by Reducing Cholesterol Levels at the Plasma Membrane to Activate EGFR and HER3

Advanced Science, EarlyView.
By decreasing cholesterol and lipid raft levels in the plasma membrane, proprotein convertase subtilisin/kexin type 9 (PCSK9) boosts human epidermal growth factor receptor 1 and 3 (EGFR and HER3) activation, driving tumor growth and metastasis in triple‐negative breast cancer (TNBC).
Tianhong Li, Renfei Wu, Kathy Qian Luo
wiley   +1 more source

GT to AT transition at a splice donor site causes skipping of the preceding exon in Phenylketonuria [PDF]

, 1987
Joshua Marvit, Anthony G. DiLella, Kelly A. Brayton, Fred D. Ledley, Kathryn Robson, S.L.C. Woo   +5 more
openalex   +1 more source

AAVR Expression is Essential for AAV Vector Transduction in Sensory Hair Cells

Advanced Science, EarlyView.
Decreased sensitivity to AAV vector transduction in the outer hair cells (OHCs) of adult mice is primarily attributed to reduction of AAVR (Kiaa0319l; Au040320). Knockout of AAVR reduces AAV vector transduction efficiency in both inner hair cells (IHCs) and OHCs in neonatal mice.
Fan Wu, Guisheng Chen, Rui Hu, Peiwen Liu, Jintao Lou, Wenji Zhao, Zuhong He, Suhua Sha, Yiqing Zheng   +8 more
wiley   +1 more source

Investigation of Mutations in Exons 15 and 18 of MYBPC3 Gene in Hypertrophic Cardiomyopathy Patients [PDF]

Majallah-i dānishgāh-i ̒ulūm-i pizishkī-i Arāk, 2015
Background: Hypertrophic cardiomyopathy (HCM) is a various collection of heart diseases with autosomal dominant inheritance affecting 0.2% of the global population.
Behnaz Sadat Abedi, Seyedeh Zohreh kiyani, Morteza Hashemzadeh Chaleshtori, Shahrbanoo Parchami, Abbas Doosti   +4 more
doaj  

The PreA4₆₉₅precursor protein of Alzheimer's disease A4 amyloid is encoded by 16 exons [PDF]

, 1989
H. G. Lemaire, J. Michael Salbaum, Gerd Multhaup, Jie Kang, Richard M. Bayney, Axel Unterbeck, Konrad Beyreuther, Benno Müller‐Hill   +7 more
openalex   +1 more source

Single Administration of AAV‐mAtp6v1b2 Gene Therapy Rescues Hearing and Vestibular Disorders Caused by Atp6v1b2‐Induced Lysosomal Dysfunction in Hair Cells

Advanced Science, EarlyView.
Wei et al. establish a hair cell‐specific conditional knockout mouse model (Atp6v1b2fl/fl;Atoh1Cre/+), and demonstrate the importance of Atp6v1b2 for hair cell through maintaining the survival of lysosomes. A single administration of AAV‐ie‐Eh3‐mAtp6v1b2 through scala media at P0‐P2 realizes function compensation and restores hearing and balance ...
Gege Wei, Shiwei Qiu, Xue Gao, Lu Zheng, Yijin Chen, Ying Ma, Haifeng Feng, Jinyuan Yang, Guojie Dong, Huiyi Nie, Weihao Zhao, Xiaoge Li, Guangqin Wang, Wei Xiong, Pu Dai, Yongyi Yuan   +15 more
wiley   +1 more source

Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant. [PDF]

, 1989
James A. Trofatter, S. R. Dlouhy, William DeMyer, P.M. Conneally, M. E. Hodes   +4 more
openalex   +1 more source

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

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

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