Results 71 to 80 of about 12,192,107 (344)

How Surrogate and Chemical Genetics in Model Organisms Can Suggest Therapies for Human Genetic Diseases

Genetics, 2018
Genetic diseases are both inherited and acquired. Many genetic diseases fall under the paradigm of orphan diseases, a disease found in < 1 in 2000 persons.
Katherine A Strynatka, Michelle C Gurrola-Gal, J. Berman, C. McMaster   +3 more
semanticscholar   +1 more source

Interaction vesicles as emerging mediators of host‐pathogen molecular crosstalk and their implications for infection dynamics

FEBS Letters, EarlyView.
Interaction extracellular vesicles (iEVs) are hybrid vesicles formed through host‐pathogen communication. They facilitate immune evasion, transfer pathogens' molecules, increase host cell uptake, and enhance virulence. This Perspective article illustrates the multifunctional roles of iEVs and highlights their emerging relevance in infection dynamics ...
Bruna Sabatke, Izadora Volpato Rossi, Marcel I. Ramirez   +2 more
wiley   +1 more source

Applications of gene modification technologies in the treatment of inherited diseases

Journal of Education, Health and Sport
Introduction and Purpose: In last years gene modification technologies such as CRISPR/Cas9 has had a revolutionary impact on the treatment of inherited diseases.
Maciej Superson, Katarzyna Szmyt, Klaudia Wilk-Trytko, Julia Krasnoborska, Sylwia Samojedny, Katarzyna Szymańska, Kamil Walczak   +6 more
doaj   +1 more source

STAT3 expression is reduced in cardiac pericytes in HFpEF and its loss reduces cellular adhesion and induces pericyte senescence

FEBS Letters, EarlyView.
Heart failure with preserved ejection fraction (HFpEF) accounts for half of the heart failure cases. It is characterised by microvascular dysfunction, associated with reduced pericyte coverage and diminished STAT3 expression in pericytes. Loss of STAT3 impairs pericyte adhesion, promotes senescence, and activates a pro‐fibrotic gene program.
Leah Rebecca Vanicek, Ariane Fischer, Mariano Ruz Jurado, Anita Tamiato, Tara Procida‐Kowalski, Jochen Wilhelm, Dennis Hecker, Maximilian Merten, Felicitas Escher, Badder Kattih, Valentina Puntmann, David John, Marcel H. Schulz, Eike Nagel, Stefanie Dimmeler, Guillermo Luxán   +15 more
wiley   +1 more source

Cytoplasmic delivery of antibodies through grafting a functional single complementarity‐determining region loop

FEBS Letters, EarlyView.
We achieved cytoplasmic delivery of non‐cell‐penetrating IgGs by grafting a single functional complementarity‐determining region 1 (CDR1) from the light chain variable region (VL) of the cell‐internalizable 3D8 antibody. The engineered IgG acquired cell‐penetrating ability while maintaining antigen affinity, highlighting CDR1 grafting as a promising ...
Yerin Jeon, Juho Choi, Youngin Roh, Eunbin Lee, Luigie Villamante, Myung‐Hee Kwon   +5 more
wiley   +1 more source

Exploring the psychological problems of mothers having the experience of death of children with untreatable genetic disorders: A qualitative study

Journal of Education and Health Promotion
BACKGROUND: A newborn with an untreatable genetic disorder could disrupt a family and affect parents’ mental health, psycho-social interaction, and parent–child relationships.
Marzyeh Kermanian, Mahsa Khodayarian, Abbasali Dehghan Tafti, Naiire Salmani   +3 more
doaj   +1 more source

The Quantitative Genetics of Human Disease: 1 Foundations [PDF]

arXiv, 2023
In this the first of an anticipated four paper series, fundamental results of quantitative genetics are presented from a first principles approach. While none of these results are in any sense new, they are presented in extended detail to precisely distinguish between definition and assumption, with a further emphasis on distinguishing quantities from ...
arxiv  

Ion channel function of polycystin‐2/polycystin‐1 heteromer revealed by structure‐guided mutagenesis

FEBS Letters, EarlyView.
Mutations in polycystin‐1 (PC1) or polycystin‐2 (PC2) cause autosomal‐dominant polycystic kidney disease (ADPKD). We generated a novel gain‐of‐function PC2/PC1 heteromeric ion channel by mutating pore‐blocking residues. Moreover, we demonstrated that PC2 will preferentially assemble with PC1 to form heteromeric complexes when PC1 is co‐expressed ...
Tobias Staudner, Juthamas Khamseekaew, M. Gregor Madej, Linda Geiges, Bardha Azemi, Christine Ziegler, Christoph Korbmacher, Alexandr V. Ilyaskin   +7 more
wiley   +1 more source

Cataract and genetic diseases

Quality in Sport
Despite the decreasing number of cases, cataract is still the leading cause of visual impairment and blindness worldwide. The search for the causes of this disease, its risk factors and the relationship with systemic diseases is the subject of many ...
Mateusz Kozik, Nina Skalska-Dziobek, Weronika Małagocka, Maria Rozpłoch-Sapa, Karolina Chybowska, Mateusz Orłowski, Maria Naruszewicz, Przemysław Cetnarowski, Aleksandra Midro, Karol Zagórski   +9 more
doaj   +1 more source

GENETICS OF AUTISTIC DISORDER (REVIEW OF FOREIGN LITERATURE)

Русский журнал детской неврологии, 2015
Autism can occur in combination with chromosomal and genetic syndromes, malformations of the brain, metabolic diseases, etc. In this regard, currently adopted the term «atypical» or «syndromic» autism – autism, which is a symptom of another disease ...
M. Yu. Bobylova, H. L. Petchatnikova
doaj   +1 more source