Results 191 to 200 of about 390,058 (293)

Evaluation of Pathogenic Variants Associated With Monogenic Disorders of Dyslipidemia in Patients With Well Characterised MASLD. [PDF]

Liver Int
Schwantes-An TH, Abreu MA, Neuschwander-Tetri BA, Wang J, Guo X, Tan J, Hegele RA, Davidson NO, Lotta L, Verweij N, Yates KP, Rotter JI, Chalasani N.   +12 more
europepmc   +1 more source

HIV‐1 establishes immediate latency in T cells expressing the viral Nef protein

FEBS Open Bio, EarlyView.
Nef is a viral protein often omitted from HIV‐1 reporter viruses. Consequently, its role in viral latency is unclear. We developed three novel dual reporter HIV‐1 derivatives that express Nef and allow for detection of latent and productive infection. Using these reporters, we show that Nef does not affect the establishment of immediate viral latency ...
Cindy Lam, Ivan Sadowski
wiley   +1 more source

Tyrer-Cuzick Lifetime Risk Is Not Associated With Non-BRCA1/2 Pathogenic Variants for Breast Carcinoma. [PDF]

Breast J
Rao D, Wernecke C, Baron L, Cai S, Beitsch P, Patel R, Whitworth P, Rosen B, Tran NN, Hughes K, Baron PL.   +10 more
europepmc   +1 more source

Alcohol‐induced altered glycans in human tracheal epithelial cells promote bacterial adhesion

FEBS Open Bio, EarlyView.
Alcohol induces altered glycans to promote bacteria adhesion. Heavy alcohol drinking is known to increase the risk of bacterial pneumonia. However, the link between alcohol levels and risk of infection remains underexplored. Recently, we found that alcohol induced α2‐6sialo mucin O‐glycans in human tracheobronchial epithelial cells, which mediated the ...
Pi‐Wan Cheng, Souvik Datta, Derrick R. Samuelson   +2 more
wiley   +1 more source

Carriers of LRRK2 pathogenic variants show a milder, anatomically distinct brain signature of Parkinson's disease. [PDF]

Commun Med (Lond)
Kopal J, Vo A, Tao Q, Simuni T, Chahine LM, Bzdok D, Dagher A.   +6 more
europepmc   +1 more source

The importance of dynamic reanalysis In diagnostic whole exome sequencing [PDF]

, 2016
Goldstein, DB, Need, AC, Petrovski, SP, Schoch, K, Shashi, V   +4 more
core   +1 more source

Pathogenic non-coding variant identification [PDF]

Nature Reviews Genetics, 2016
openaire   +1 more source

Promiscuous stimulation of HSP70 ATPase activity by parasite‐derived J‐domains

FEBS Open Bio, EarlyView.
The malaria parasite Plasmodium falciparum exports three highly homologous yet functionally divergent J‐domain proteins into human erythrocytes. Here, we show that J‐domains isolated from all three proteins effectively stimulate the ATPase activity of both endogenous host and exported parasite HSP70 chaperones.
Julian Barth, Moritz Koch, Le‐Han Rössner, Johanna Eichhorn, Denys Pogoryelov, Matthias P. Mayer, Jude M. Przyborski   +6 more
wiley   +1 more source

Identification of functional murine mitochondrial formyl peptides and their effects on myeloid‐derived suppressor cell generation

FEBS Open Bio, EarlyView.
We first identified functional murine mitochondrial N‐formyl peptides (MT‐FPs) and investigated their effects on the in vitro myeloid‐derived suppressor cell (MDSC) generation from bone marrow cells. We demonstrated that MT‐FPs acted directly on bone marrow cells to promote MDSC generation and modulated the polymorphonuclear (PMN)‐MDSC/monocyte (M ...
Miyako Ozawa, Saori Kagoshima, Akira Yamada   +2 more
wiley   +1 more source

Pediatric Oncology Patients With Germline Pathogenic Variants in Adult-Onset Cancer Predisposition Genes. [PDF]

JCO Precis Oncol
Jacobs MF, Austin S, Murad AM, Koeppe E, Kumar-Sinha C, Robinson DR, Wu YM, Vo JN, Koschmann C, Robertson P, Franson A, Leung D, Chinnaiyan AM, Mody RJ.   +13 more
europepmc   +1 more source