Results 161 to 170 of about 1,069,421 (301)

A novel variant of NOTCH2 causes skeletal fragility. [PDF]

Bone
Canalis E, Yu J, Denker E, Schilling L, Deymier A, Hao B, Carpenter T.   +6 more
europepmc   +1 more source

Circular RNA expression landscapes in myelodysplastic neoplasms: Associations with mutational signatures and disease progression

Molecular Oncology, EarlyView.
In this explorative study, the abundance of circular RNA molecules in bone marrow stem cells was found to be elevated in patients with high‐risk myelodysplastic neoplasms, and to be associated with an increased risk of progression to acute myeloid leukemia.
Eileen Wedge, Morten Tulstrup, Gabriele Todisco, Pedro Moura, Christophe Côme, Jakob Werner Hansen, Jakob Schmidt Jespersen, Balthasar Schlotmann, Maria Creignou, Mette Dahl, Claudia Schöllkopf, Klas Raaschou‐Jensen, Krister Wennerberg, Bo Porse, Joachim Weischenfeldt, Eva Hellström‐Lindberg, Lasse Sommer Kristensen, Kirsten Grønbæk   +17 more
wiley   +1 more source

Refractory infantile IPEX with Treg-restricted FOXP3null expression caused by a novel variant in <i>FOXP3</i>. [PDF]

J Hum Immun
Rayes A, Ramachandran A, Pulsipher MA, Dolan JG, Cho S, Johnson AK, Alexander JL, Borna S, Bacchetta R.   +8 more
europepmc   +1 more source

Colorectal cancer‐derived FGF19 is a metabolically active serum biomarker that exerts enteroendocrine effects on mouse liver

Molecular Oncology, EarlyView.
Meta‐transcriptome analysis identified FGF19 as a peptide enteroendocrine hormone associated with colorectal cancer prognosis. In vivo xenograft models showed release of FGF19 into the blood at levels that correlated with tumor volumes. Tumoral‐FGF19 altered murine liver metabolism through FGFR4, thereby reducing bile acid synthesis and increasing ...
Jordan M. Beardsley, Michael W. Rohr, Joseph A. Goode, Sai Preethi Nakkina, Jignesh G. Parikh, Deborah A. Altomare   +5 more
wiley   +1 more source

A novel variant in MYBPC3 causes hypertrophic cardiomyopathy by haploinsufficiency. [PDF]

PLoS One
Zhang Y, Gong W, Cong Y, Zhang X, Zheng Z.   +4 more
europepmc   +1 more source

Submitting Novel Globin Gene Variants to Hemoglobin

Hemoglobin, 2023
Cornelis L. Harteveld, George P. Patrinos, Joanne Traeger-Synodinos, Petros Kountouris, Celeste Bento, Adekunle Adekile   +5 more
openaire   +3 more sources

Identification of serum protein biomarkers for pre‐cancerous lesions associated with pancreatic ductal adenocarcinoma

Molecular Oncology, EarlyView.
This work identified serum proteins associated with pancreatic epithelial neoplasms (PanINs) and early‐stage PDAC. Proteomics screens assessed genetically engineered mice with abundant PanINs, KPC mice (Lox‐STOP‐Lox‐KrasG12D/+ Lox‐STOP‐Lox‐Trp53R172H/+ Pdx1‐Cre) before PDAC development and also early‐stage PDAC patients (n = 31), compared to benign ...
Hannah Mearns, Jaclyn S. Long, Sergio Lilla, Kelly Hodge, Marcus J. G. W. Ladds, Colin Nixon, Paula Fernández‐Palanca, Sara Zanivan, Pilar Acedo, Stephen P. Pereira, Kevin M. Ryan   +10 more
wiley   +1 more source

A novel variant c.A527G in <i>ITGB4</i> leads to autosomal dominant epidermolysis bullosa in China. [PDF]

Front Med (Lausanne)
Li J, Yang X, He Y, Cheng P, Li H, Deng A, Wang X, Cai W, Hu J, Tang Q, Gao Y, Hu Y.   +11 more
europepmc   +1 more source

Genetic attenuation of ALDH1A1 increases metastatic potential and aggressiveness in colorectal cancer

Molecular Oncology, EarlyView.
Aldehyde dehydrogenase 1A1 (ALDH1A1) is a cancer stem cell marker in several malignancies. We established a novel epithelial cell line from rectal adenocarcinoma with unique overexpression of this enzyme. Genetic attenuation of ALDH1A1 led to increased invasive capacity and metastatic potential, the inhibition of proliferation activity, and ultimately ...
Martina Poturnajova, Zuzana Kozovska, Ondrej Pos, Kristina Pavlov, Sachin Gulati, Peter Makovicky, Kristina Jakic, Monika Burikova, Eva Sedlackova, Barbora Svitkova, Silvia Tyciakova, Vojtech Bystry, Nicolas Blavet, Boris Tichy, Matej Hrnciar, Jaroslav Budis, Miroslav Tomas, Peter Dubovan, Georgina Kolnikova, Veronika Repaska, Nikoleta Mojzesova, Eva Zomborska, Daniel Pindak, Michal Mego, Tomas Szemes, Miroslava Matuskova   +25 more
wiley   +1 more source

A novel variant in <i>SIAH1</i> associated with autosomal dominant Buratti-Harel syndrome. [PDF]

Front Neurosci
Zheng H, Zhang L, Li F.
europepmc   +1 more source