Results 141 to 150 of about 451,573 (269)

Mapping quantitative trait loci affecting sternopleural bristle number in Drosophila melanogaster using changes of marker allele frequencies in divergently selected lines [PDF]

, 1998
Sergey V. Nuzhdin, Peter D. Keightley, E. G. Pasyukova, Elena A. Morozova   +3 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

Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 526-539, February 2023., 2023
Abstract Deletion of 17p13.3 has varying degrees of severity on brain development based on precise location and size of the deletion. The most severe phenotype is Miller–Dieker syndrome (MDS) which is characterized by lissencephaly, dysmorphic facial features, growth failure, developmental disability, and often early death.
Elizabeth K. Baker, Casey J. Brewer, Leonardo Ferreira, Mark Schapiro, Jeffrey Tenney, Heather M. Wied, Beth M. Kline‐Fath, Teresa A. Smolarek, K. Nicole Weaver, Robert J. Hopkin   +9 more
wiley   +1 more source

Integrated variant allele frequency analysis pipeline and R package: easyVAF. [PDF]

Mol Carcinog, 2023
Hu J, Alami V, Zhuang Y, Alzofon N, Jimeno A, Gao D.   +5 more
europepmc   +1 more source

Increased frequency of wild-type arylamine-N-acetyltransferase allele NAT2*4 homozygotes in Portuguese patients with colorectal cancer [PDF]

, 1998
José Pedro Gil
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

Genome-Wide Allele Frequency Changes Reveal That Dynamic Metapopulations Evolve Differently. [PDF]

Mol Biol Evol
Angst P, Haag CR, Ben-Ami F, Fields PD, Ebert D.   +4 more
europepmc   +2 more sources

Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients. [PDF]

, 1995
Marian A. Kroos, Magna Van der Kraan, O. P. van Diggelen, Wim J. Kleijer, Arnold Reuser, M. J. van den Boogaard, M.G.E.M. Ausems, Hans Kristian Ploos van Amstel, Livia Poënaru, Marc Nicolino   +9 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

Alleles at Plasma &alpha;-Amylase Locus (<I>Amy-1</I>) of the House Musk Shrew (<I>Suncus murinus</I>) : Frequency Distribution and New Variants in Laboratory Lines and Local Asian Populations

, 1988
Yuji Tsubota, Takao NAMIKAWA
openalex   +2 more sources