Results 121 to 130 of about 54,157 (345)

PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism. [PDF]

, 2006
We analyzed the PINK1 gene in 58 patients with early-onset Parkinsonism and detected the homozygous mutation W437X in 1 patient. The clinical phenotype was characterized by early onset (22 years of age), good re- sponse to levodopa, early fluctuations ...
CRISCUOLO C, DALLAPICCOLA B, DE MICHELE, GIUSEPPE, DE ROSA, ANNA, FILLA, ALESSANDRO, MANCINI P, MARONGIU R, SALVATORE, ELENA, VALENTE EM, VARRONE A, VOLPE G   +10 more
core  

Lymphoid‐Tissue‐on‐Chip Recapitulates Human Antibody Responses In Vitro

Advanced Science, EarlyView.
The presented lymphoid‐tissue‐on‐chip system allows culture of primary human tonsil cells at organotypic high density under perfusion for up to 4 weeks, emulates immune response to soluble vaccines and vaccination via peripheral antigen‐presenting cells and represents a useful tool to assess cellular interactions during homeostasis, immune responses ...
Claudia Teufel, Anna‐Sophie Schlemmer, Andrea W. Eiken, Zachary W. Wagoner, Dennis Vöhringer, Lena Christ, Alex Dulovic, Patrick Marsall, Madeleine Fandrich, Eduardo J. S. Brás, Julia Marzi, Friederike Bärhold, Julia Philipp, Sven Becker, Lisa E. Wagar, Peter Loskill   +15 more
wiley   +1 more source

Modeling the effects of consanguinity on autosomal and X-chromosomal runs of homozygosity and identity-by-descent sharing [PDF]

, 2023
Daniel J. Cotter, Alissa L. Severson, Jonathan T. L. Kang, Hormazd N Godrej, Shai Carmi, Noah A. Rosenberg   +5 more
openalex   +1 more source

Chemically Engineered L. reuteri Delivering αPD‐L1 and Gallium Ions via Metal‐Phenolic Networks Potentiate Anti‐Tumor Immunity and Ferroptosis

Advanced Science, EarlyView.
A multifaceted chemical strategy, integrating bacterial tropism, metal‐ion interference therapy, and immunotherapy, resulted in significant tumor regression in murine models. A pioneering paradigm for the design of biohybrid materials was established, highlighting how sophisticated chemical engineering of living systems can unlock new avenues for ...
Tingting Zhang, Mengyi Xu, Yan Zhang, Zhiwen Li, Danqing Song, Jing Pang, Ke Li, Yanxiang Wang   +7 more
wiley   +1 more source

Awareness of Premarital Screening and Genetic Counseling among Saudis and its Association with Sociodemographic Factors: a National Study

Journal of Multidisciplinary Healthcare, 2021
Walid A Al-Shroby,1,2 Suha M Sulimani,3 Sultana A Alhurishi,4 Maram E Bin Dayel,1 Nora A Alsanie,3 Najla J Alhraiwil1 1Evaluation & Impact Measurement Unit, Deputyship of Public Health, Ministry of Health, Kingdom of Saudi Arabia, Riyadh, Saudi ...
Al-Shroby WA, Sulimani SM, Alhurishi SA, Bin Dayel ME, Alsanie NA, Alhraiwil NJ   +5 more
doaj  

Self-Similarity in Population Dynamics: Surname Distributions and Genealogical Trees

Entropy, 2015
The frequency distribution of surnames turns out to be a relevant issue not only in historical demography but also in population biology, and especially in genetics, since surnames tend to behave like neutral genes and propagate like Y chromosomes.
Paolo Rossi
doaj   +1 more source

A discrete event system specification (DEVS)-based model of consanguinity [PDF]

, 2011
Noreen Akhtar, Muaz A. Niazi, Farah Mustafa, Amir Hussain   +3 more
openalex   +1 more source

EEPD1 Inhibition Unleashes Antitumor Immunity in Colorectal Cancer by Activating the cGAS‐STING Pathway

Advanced Science, EarlyView.
In colorectal cancer, high expression of the DNA repair protein EEPD1 correlates with immune exclusion and poor prognosis. This study demonstrates that EEPD1 depletion induces genomic instability, leading to cytosolic DNA accumulation and subsequent activation of the cGAS‐STING‐type I interferon pathway. This cascade remodels the tumor microenvironment
Liyun Huo, Chong Wu, Xiaobo Li, Caina Ma, Jiamin Huang, Zishuo Chen, Weiling He, Tianyu Tao, Weijing Zhang   +8 more
wiley   +1 more source

The role of AGG interruptions in the FMR1 gene stability: A survey in ethnic groups with low and high rate of consanguinity

Molecular Genetics & Genomic Medicine, 2019
Background The prevalence and the role of AGG interruptions within the FMR1 gene in the normal population is unknown. In this study, we investigated the frequent of AGG loss, in one or two alleles within the normal population. The role of AGG in the FMR1
Esther Manor, Raphael Gonen, Benjamin Sarussi, Danielle Keidar‐Friedman, Jay Kumar, Hiu‐Tung Tang, Flora Tassone   +6 more
doaj   +1 more source

A Community-Based Study of Mucopolysaccharidosis Type VI in Brazil: The Influence of Founder Effect, Endogamy and Consanguinity [PDF]

, 2014
Fabiana Moura Costa-Motta, Fernanda Bender, Angelina Xavier Acosta, Kiyoko Abe‐Sandes, Taisa Manuela Bonfim Machado, Thaís Ferreira Bomfim, Tatiana Boa Sorte, Danniel da Silva, A.H. Bittles, Roberto Giugliani, Sandra Leistner‐Segal   +10 more
openalex   +1 more source