Results 331 to 340 of about 2,140,385 (376)

The effectiveness of expanded carrier screening based on next-generation sequencing for severe monogenic genetic diseases. [PDF]

Hum Genomics
Zhang X, Chen Q, Li J, Luo X, Luo J, Li J, Zeng Z, Wu Y, Zhang H, Dong Y.   +9 more
europepmc   +1 more source

Advanced glycation end products promote the release of endothelial cell‐derived mitocytosis

FEBS Open Bio, EarlyView.
Under diabetic conditions, AGEs induce mitochondrial damage in HUVECs, activating migrasome‐mediated mitocytosis. Migrasomes encapsulate damaged mitochondria and are released into the extracellular space, facilitating intercellular mitochondrial transfer.
Rong Liu, Yuhao Zhang, Tiantian Ge, Hao Wu, Yongbin Ma, Honghua Ye, Fei Guo   +6 more
wiley   +1 more source

Data from electronic healthcare records expand our understanding of X-linked genetic diseases. [PDF]

Am J Med Genet A
Tinker RJ, Bastarache L, Ezell K, Neumann SM, Furuta Y, Morgan KA, Phillips JA.   +6 more
europepmc   +1 more source

Co‐expression of HSV‐1 ICP34.5 enhances the expression of gene delivered by self‐amplifying RNA and mitigates its immunogenicity

FEBS Open Bio, EarlyView.
ICP34.5 is one of the most important antihost response proteins. The saRNA‐encoding HSV‐1 neurovirulence protein ICP34.5 clearly mediated the eukaryotic initiation factor 2 alpha subunit (eIF2α) dephosphorylation and significant suppression of innate immune responses in vitro, leading to enhanced expression of the saRNA‐encoded gene.
Xuemin Lu, Yabin Wu, Chunye Zhao, Jie Zheng, Shangwu Chen, Yigang Wang, Yulong Xia   +6 more
wiley   +1 more source

Integrating reinforcement learning and serious games to support people with rare genetic diseases and neurodevelopmental disorders: outcomes on parents and caregivers. [PDF]

Front Psychol
Stasolla F, Akbar K, Passaro A, Dragone M, Di Gioia M, Zullo A.   +5 more
europepmc   +1 more source

Functional and in silico analysis of ATP8A2 and other P4-ATPase variants associated with human genetic diseases.

Dis Model Mech
Matsell E, Andersen JP, Molday RS.
europepmc   +1 more source

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Genetics of Dupuytren's disease

Joint Bone Spine, 2012
Dupuytren's disease (DD) is a progressive fibrosis of the palmar fascia characterized by the formation of a nodule, which evolves into a cord. DD is the most common hereditary disease of the connective tissue preferentially affecting Caucasoids originating from Northern Europe.
Michou, Laëtitia, Lermusiaux, Jean-Luc, Teyssedou, Jean-Pierre, Bardin, Thomas, Beaudreuil, Johann, Petit-Teixeira, Elisabeth   +5 more
openaire   +6 more sources

The genetics of complex diseases

Trends in Cell Biology, 1999
Genetic factors influence virtually every human disorder, determining disease susceptibility or resistance and interactions with environmental factors. Our recent successes in the genetic mapping and identification of the molecular basis of mendelian traits have been remarkable.
Glenys Thomson, Michael S. Esposito
openaire   +3 more sources

Genetics of celiac disease

Best Practice & Research Clinical Gastroenterology, 2015
New insights into the underlying molecular pathophysiology of celiac disease (CeD) over the last few years have been guided by major advances in the fields of genetics and genomics. The development and use of the Immunochip genotyping platform paved the way for the discovery of 39 non-HLA loci associated to CeD, and for follow-up functional genomics ...
Isis Ricaño-Ponce, Cisca Wijmenga, Javier Gutierrez-Achury   +2 more
openaire   +4 more sources