Results 131 to 140 of about 97,533 (239)

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

The apo LETM1 F-EF-hand adopts a closed conformation that underlies a multi-modal sensory role in mitochondria. [PDF]

FEBS Lett
Lin QT, Colussi DM, Stathopulos PB.
europepmc   +1 more source

A ternary complex of MIPs in the A-tubule of basal bodies and axonemes depends on RIB22 and the EF-hand domain of RIB72A in <i>Tetrahymena</i> cilia. [PDF]

Mol Biol Cell
Howard-Till RA, Li S, Pallabi Kar U, Fuentes CN, Fabritius AS, Winey M.   +5 more
europepmc   +1 more source

EF-Hand Domain-Containing Protein D2 (EFHD2) Correlates with Immune Infiltration and Predicts the Prognosis of Patients: A Pan-Cancer Analysis.

Comput Math Methods Med, 2022
Wang Y, Song M, Gao B.
europepmc   +1 more source

EF-hand calcium sensor, EfhP, controls transcriptional regulation of iron uptake by calcium in Pseudomonas aeruginosa. [PDF]

mBio
Burch-Konda J, Kayastha BB, Achour M, Kubo A, Hull M, Braga R, Winton L, Rogers RR, Lutter EI, Patrauchan MA.   +9 more
europepmc   +1 more source

The Penta-EF-Hand ALG-2 Protein Interacts with the Cytosolic Domain of the SOCE Regulator SARAF and Interferes with Ubiquitination. [PDF]

Int J Mol Sci, 2020
Zhang W, Muramatsu A, Matsuo R, Teranishi N, Kahara Y, Takahara T, Shibata H, Maki M.   +7 more
europepmc   +1 more source

LETM1 (leucine zipper-EF-hand-containing transmembrane protein 1) silence reduces the proliferation, invasion, migration and angiogenesis in esophageal squamous cell carcinoma via KIF14 (kinesin family member 14). [PDF]

Bioengineered, 2021
Zhao Q, Chen S, Chen L.
europepmc   +1 more source

Flexibility of Binding Site is Essential to the Ca²⁺ Selectivity in EF-Hand Calcium-Binding Proteins. [PDF]

J Am Chem Soc
Lai R, Li G, Cui Q.
europepmc   +1 more source

Integrated Assessment of Lipid Oxidation and Off‐Flavor Formation in Plant Protein Powders

Journal of the American Oil Chemists' Society, EarlyView.
Impact of residual lipids on oxylipin and off‐flavor formation in commercial plant proteins: A detailed analysis of precursor‐product relationships by GC‐FID, LC‐MS/MS, and GC‐MS. ABSTRACT The widespread adoption of plant proteins is hindered by their inherent off‐flavors, often linked to lipid oxidation products.
Fernanda Furlan Goncalves Dias, Wellington da Silva Oliveira, Stanislau Bogusz Junior, Ameer Y. Taha   +3 more
wiley   +1 more source

Chemical shift assignments of the α-actinin C-terminal EF-hand domain bound to a cytosolic C0 domain of GluN1 (residues 841-865) from the NMDA receptor. [PDF]

Biomol NMR Assign
Bej A, Hell JW, Ames JB.
europepmc   +1 more source