Results 151 to 160 of about 451,573 (269)

Analysis of Ha-ras 1 allele frequencies in hereditary non-polyposis colorectal cancer. [PDF]

, 1995
P. JEEVARATNAM, Peter Browett, N. S. Van de Water, J R Jass   +3 more
openalex   +1 more source

Pan‐Variant SARS‐CoV‐2 Vaccines Induce Protective Immunity by Targeting Conserved Epitopes

Advanced Science, EarlyView.
An integrative approach identifies conserved B‐cell and T‐cell epitopes within SARS‐CoV‐2 proteins, redirecting immune responses from variable to conserved regions. These epitopes elicit robust humoral and cellular immunity, neutralizing diverse viral variants. Promiscuous T‐cell epitopes demonstrate cross‐species efficacy, highlighting their potential
Masaud Shah, Sung Ung Moon, Ji‐Yon Shin, Ji‐Hye Choi, Doyoon Kim, Hyun Goo Woo   +5 more
wiley   +1 more source

Trumpet plots: visualizing the relationship between allele frequency and effect size in genetic association studies. [PDF]

GigaByte, 2023
Corte L, Liou L, O'Reilly PF, García-González J.   +3 more
europepmc   +1 more source

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

Microsatellite allele frequencies in humans and chimpanzees, with implications for constraints on allele size. [PDF]

, 1995
John Carlos Garza, Montgomery Slatkin, Nelson B. Freimer   +2 more
openalex   +1 more source

Deciphering Auditory Hyperexcitability in Otogl Mutant Mice Unravels an Auditory Neuropathy Mechanism

Advanced Science, EarlyView.
By investigating auditory hyperexcitability in a mouse model for hereditary deafness, this study identified a subpopulation of afferent neurons of the auditory nerve marked by Otogl expression. Despite their apparently normal hearing, Otogl+/− mice display poor activation of afferent neurons processing loud sounds and an elevation of the middle the ear
Mathilde Gagliardini, Sabrina Mechaussier, Carolina Campos Pina, Monica Morais, Olivier Postal, Philippe Jean, Typhaine Dupont, Amrit Singh‐Estivalet, Shéhanie Udugampolage, Cyril Scandola, Elisabeth Verpy, Baptiste Libé‐Philippot, Talya C. Inbar, Joanna Schwenkgrub, Carla Maria Barbosa Spinola, Raphaël Etournay, Aziz El‐Amraoui, Brice Bathellier, Adeline Mallet, Sedigheh Delmaghani, Fabrice Giraudet, Christine Petit, Boris Gourévitch, Paul Avan, Nicolas Michalski   +24 more
wiley   +1 more source

NF2 is Essential for Human Endoderm Development

Advanced Science, EarlyView.
This study demonstrates that NF2, moesin‐ezrin‐radixin like (MERLIN) tumor suppressor (NF2) is essential for human endoderm formation. NF2 knockout human induced pluripotent stem cells fail to form endoderm both in vitro and in vivo due to yes‐associated protein 1 (YAP1) nuclear translocation, redirecting differentiation toward myofibroblast‐like cells.
Minjin Jeong, Dongjun Han, Preetida Bhetariya, D. Bradley Welling, Miodrag Stojkovic, Konstantina M. Stankovic   +5 more
wiley   +1 more source

A comprehensive analysis of genetic risk for metabolic syndrome in the Egyptian population via allele frequency investigation and Missense3D predictions. [PDF]

Sci Rep, 2023
Bassyouni M, Mysara M, Wohlers I, Busch H, Saber-Ayad M, El-Hadidi M.   +5 more
europepmc   +1 more source

Familial Porphyria Cutanea Tarda: Characterization of Seven Novel Uroporphyrinogen Decarboxylase Mutations and Frequency of Common Hemochromatosis Alleles [PDF]

, 1998
Manuel Méndez, Lonnie Sorkin, María Victoria Rossetti, Kenneth H. Astrin, Alcira Batlle, Victoria Estela Parera, G. Aizencang, Robert J. Desnick   +7 more
openalex   +1 more source

Cost‐Effective Identification of Hepatocellular Carcinoma from Cirrhosis or Chronic Hepatitis Virus Infection Using Eight Methylated Plasma DNA Markers

Advanced Science, EarlyView.
Early detection of hepatocellular carcinoma in patients with liver cirrhosis and/or hepatitis virus B/C infection improves survival. Through marker discovery, 8 methylated DNA markers are identified and a logistic regression model (COMET‐LR) is built in the training set, which achieved 90.0% sensitivity at 97.4% specificity in the validation set.
Tian Yang, Mingda Wang, Nanya Wang, Mingxin Pan, Yu Xu, Qiancheng You, Lanqing Yao, Jiahao Xu, Lihui Gu, Xiaodong Sun, Lei Zhang, Jiayue Xu, Bingsi Li, Guoqiang Wang, Shangli Cai, Guoyue Lv, Feng Shen   +16 more
wiley   +1 more source