Results 171 to 180 of about 427,618 (269)

CXCR2 deficiency with myelokathexis caused by a novel variant: correction via CRISPR/Cas9. [PDF]

Haematologica
Hinke DM, Dorset SR, Bratland E, Wolff JH, Olsnes AM, Mikkelsen JG, Helgeland L, Bak RO, Benneche A, Mogensen TH.   +9 more
europepmc   +1 more source

The PI3Kδ inhibitor roginolisib (IOA‐244) preserves T‐cell function and activity

Molecular Oncology, EarlyView.
Identification of novel PI3K inhibitors with limited immune‐related adverse effects is highly sought after. We found that roginolisib and idelalisib inhibit chronic lymphocytic leukemia (CLL) cells and Treg suppressive functions to similar extents, but roginolisib affects cytotoxic T‐cell function and promotion of pro‐inflammatory T helper subsets to a
Elise Solli, Alessio Bevilacqua, Mathias Wenes, Denis Migliorini, Lars van der Veen, Sigrid S Skånland, Giusy Di Conza, Kjetil Taskén   +7 more
wiley   +1 more source

A novel variant p.Y250C of FZD4 influences Norrine/β-catenin signaling pathway that associates with familial exudative vitreoretinopathy (FEVR). [PDF]

Sci Rep
Yang L, Cheng J, Chen M, Ren M, Fu J.
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

Paroxysmal Dyskinesia with a Novel Variant in the Histone 3 Family 3B (H3-3B) Gene. [PDF]

Mov Disord Clin Pract
D'Onofrio G, Perreault S, Mitchell G, Meijer IA.   +3 more
europepmc   +1 more source

Cotargeting TREM2 and IL2 pathways triggers multipronged anticancer immunity

Molecular Oncology, EarlyView.
Von Locquenghien et al. report that MiTE‐144, a triggering receptor expressed on myeloid cells 2 (TREM2) blocking antibody fused to interleukin‐2 (IL2) variant with tumour microenvironment restricted activation, demonstrates superior anticancer efficiency in a preclinical setting.
Isaure Vanmeerbeek, Jenny Sprooten, Abhishek D. Garg   +2 more
wiley   +1 more source

Mucosal and skin pigmentation with abnormal nails

JEADV Clinical Practice
Fengming Chen, Ling Liu, Pingshen Fan
doaj   +1 more source

Novel variant of the NCSTN gene identified in a woman with hidradenitis suppurativa. [PDF]

J Dtsch Dermatol Ges
Hempel C, Grunewald S, Mittank-Weidner T, Simon JC, Schnabel F, Jauss RT, Schnabel V.   +6 more
europepmc   +1 more source

RaMBat: Accurate identification of medulloblastoma subtypes from diverse data sources with severe batch effects

Molecular Oncology, EarlyView.
To integrate multiple transcriptomics data with severe batch effects for identifying MB subtypes, we developed a novel and accurate computational method named RaMBat, which leveraged subtype‐specific gene expression ranking information instead of absolute gene expression levels to address batch effects of diverse data sources.
Mengtao Sun, Jieqiong Wang, Shibiao Wan
wiley   +1 more source

Functional analysis of a novel variant in the <i>COL5A1</i> gene in a Polish patient with the classical type of Ehlers-Danlos syndrome. [PDF]

Front Genet
Junkiert-Czarnecka A, Maciak K, Kacprzak MM, Łobodzińska A, Sobczyńska-Tomaszewska A, Jurkiewicz A, Gora M, Burzynska B, Pilarska-Deltow M, Haus O.   +9 more
europepmc   +1 more source