Sort   by:  
 Page size 
UnknownInterprotomer Communication and Functional Asymmetry in H/ACA snoRNPs.
Not available
S-EPMC12157440 | biostudies-literature
UnknownFreeman-Sheldon syndrome in a 29-year-old woman presenting with rare and previously undescribed features.
Not available
S-EPMC4620207 | biostudies-literature
ProteomicsUNC-45 assisted myosin folding depends on a conserved FX3HY motif implicated in Freeman Sheldon Syndrome
Myosin motors are critical for diverse motility functions ranging from cytokinesis and endocytosis to muscle contraction. The UNC-45 chaperone controls myosin function mediating the folding, assembly, and degradation of the muscle protein. Here, we analyze the molecular mechanism of UNC-45 as a hub ...
ORGANISM(S): Caenorhabditis elegans 
2024-07-25 | PXD040428 | Pride
Ufd-2 Myopathy Mhc-b Myo4 Protein quality control Crosslinking mass spectrometry Ubiquitin proteasome system Unc-45 Molecular chaperones Myosin proteostasis 
GenomicsGenetic Analysis of Limb Malformation Disorders: Freeman Sheldon Syndrome Exome Sequencing Study (LMD-FSS)

The overall goal of this project is to investigate the etiology and pathogenesis of malformations (i.e., birth defects) of the limb, concentrating on abnormalities of limb patterning such as limb deficiency/duplications and multiple congenital contractures.

The exome sequences of four ...

phs000204.v1.p1 | EGA
UnknownBilateral patellar tendon-bearing Symes-type prostheses in a severe case of Freeman-Sheldon syndrome in a 21-year-old woman presenting with uncorrectable equinovarus.
Not available
S-EPMC4513510 | biostudies-literature
UnknownPreliminary experience with delayed non-operative therapy of multiple hand and wrist contractures in a woman with Freeman-Sheldon syndrome, at ages 24 and 28 years.
Not available
S-EPMC4513577 | biostudies-literature
UnknownMitomycin resistance in Streptomyces lavendulae includes a novel drug-binding-protein-dependent export system.
Not available
S-EPMC93678 | biostudies-literature
UnknownSirt2 Inhibition Enhances Metabolic Fitness and Effector Functions of Tumor-Reactive T Cells.
Not available
S-EPMC7484212 | biostudies-literature
TranscriptomicsSMART-seq2 of Kdm5b Overexpression in Fully Grown Oocytes
RNA-seq of single Fully Grown Oocytes using SMART-seq2. The oocytes were collected from female FVB mice, approximately. 44-48 h post-PMSG injection. The oocytes were microinjected with 1.3-1.7 μg/μL Kdm5b wild-type (WT) or catalytic mutant (CM) mRNA. Noninjected oocytes are denoted as “Noninj”. The ...
ORGANISM(S): Mus musculus 
2026-06-24 | E-MTAB-15453 | biostudies-arrayexpress
TranscriptomicsTissue Factor Pathway Inhibitor-2 is Induced by Fluid Shear Stress in Vascular Smooth Muscle
Tissue Factor Pathway Inhibitor-2 is Induced by Fluid Shear Stress in Vascular Smooth Muscle Cells and Affects Cell Proliferation and Survival Introduction: Vascular smooth muscle cells (SMCs) are exposed to fluid shear stress (FSS) after interventional procedures such as balloon-angioplasty. Wher...
ORGANISM(S): Rattus norvegicus 
2010-04-12 | E-GEOD-19909 | biostudies-arrayexpress
Sort   by:  
 Page size