Results 301 to 310 of about 2,144,804 (323)

Variant Update on ASCC1: Characterization of the First Homozygous Missense Variant Involved in Prenatal‐Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Spinal muscular atrophy with congenital bone fractures 2 is a rare and severe autosomal recessive neuromuscular disorder caused by pathogenic variants in ASCC1. This condition characterized by prenatal onset of severe hypotonia with fetal hypokinesia and congenital contractures results in arthrogryposis multiplex congenita, and increased ...
A. Civit, L. Kerbellec, D. Laurenceau, D. C. Ung, M. P. Moizard, N. Ronce, P. Gueguen, F. Laumonnier, A. C. Bréhin, F. Marguet, A. Laquerrière, A. M. Bergemer Fouquet, J. Cirier, S. Blesson, S. Arpin, M. Jeanne, M. L. Vuillaume   +16 more
wiley   +1 more source

[Expression of Concern] Radiosensitization of esophageal carcinoma cells by knockdown of RNF2 expression. [PDF]

Int J Oncol
Yang XX, Ma M, Sang MX, Wang XX, Song H, Liu ZK, Zhu SC.   +6 more
europepmc   +1 more source

A Brief Overview of the Epigenetic Regulatory Mechanisms in Plants. [PDF]

Int J Mol Sci
Tresas T, Isaioglou I, Roussis A, Haralampidis K.   +3 more
europepmc   +1 more source

PD-1/PD-L1 Cancer Immunotherapeutics Reshape Tumor Microenvironment - Clinical Evidence and Molecular Mechanisms for AI-based Precision Medicine. [PDF]

Clin Rev Allergy Immunol
Lin YY, Ding JL, Shen HT, Lin YM, Adhidjaja EC, Chang SC.   +5 more
europepmc   +1 more source

A tailored enzyme cascade facilitates DNA-encoded library technology and gives access to a broad substrate scope

Buller R, Schaub D, Lessing A, Meyer F, Eichenberger M, von Haugwitz G, Stockinger P, Gloger A, Scheuermann J.   +8 more
europepmc   +1 more source

BARD1: A Friend or Foe in Pancreatic Ductal Adenocarcinoma? [PDF]

Int J Mol Sci
Zekavat L, Jain A.
europepmc   +1 more source

GSK3β Regulates a Novel β-Catenin Degradation Pathway via the GID Complex in Wnt Signaling. [PDF]

Genes Cells
Shimizu M, Shibuya H.
europepmc   +1 more source

Methods to accelerate PROTAC drug discovery. [PDF]

Biochem J
Osman J, Thompson PE, Jörg M, Scanlon MJ.   +3 more
europepmc   +1 more source

Some of the next articles are maybe not open access.

Related searches:

Temperature adaptation of DNA ligases from psychrophilic organisms

Extremophiles, 2019
K. Berg, I. Leiros, A. Williamson
semanticscholar   +1 more source