Results 21 to 30 of about 20,189 (260)

Early Resveratrol Treatment Mitigates Joint Degeneration and Dampens Pain in a Mouse Model of Pseudoachondroplasia (PSACH)

open access: yesBiomolecules, 2023
Pseudoachondroplasia (PSACH), a severe dwarfing condition associated with early-onset joint degeneration and lifelong joint pain, is caused by mutations in cartilage oligomeric matrix protein (COMP).
Jacqueline T. Hecht   +7 more
doaj   +1 more source

The results of the survey among the parents of patients with achondroplasia on the role of vosoritide therapy

open access: yesГений oртопедии, 2021
Introduction Achondroplasia (ACP) is a common skeletal dysplasia. Vozoritide is the first drug that has an effect on the pathogenesis of impaired enchondral growth in achondroplasia.
Dmitry A. Popkov   +2 more
doaj   +1 more source

Diastrophic dwarfism

open access: yesActa Orthopaedica et Traumatologica Turcica, 2021
A brother and sister with this disorder, who showed pathognomonic features like short body, short extremities, spinal deformity, hand deformities were diagnosed as having PEV previosly. One of them was treated with CSTR due to bilateral PEV.
Mahmut Berkman   +4 more
doaj  

Simultaneous mutations in SMN1 and SUMM2 fully suppress the dwarf and autoimmune phenotypes of Arabidopsis mpk4 mutant

open access: yesPlant Signaling & Behavior, 2022
Disruption of the Arabidopsis mitogen-activated protein kinase pathway, MEKK1–MKK1/MKK2–MPK4 (hereafter designated as MEKK1 pathway), leads to the activation of distinct NLRs (nucleotide-binding and leucine-rich repeat receptors), TNL (TIR-type NLR) SMN1,
Momoko Takagi   +5 more
doaj   +1 more source

Heterogeneity of a dwarf phenotype in Dutch traditional chicken breeds revealed by genomic analyses

open access: yesEvolutionary Applications, 2021
The growth of animals is a complex trait, in chicken resulting in a diverse variety of forms, caused by a heterogeneous genetic basis. Bantam chicken, known as an exquisite form of dwarfism, has been used for crossbreeding to create corresponding dwarf ...
Zhou Wu   +7 more
doaj   +1 more source

Shoulder arthroplasty in dwarfism: A case report of pseudoachondroplasia with 17-year follow-up

open access: yesOrthopedic Reviews, 2021
The purpose of this case report is to report the long-term outcome following shoulder hemiarthroplasty in a patient with dwarfism. A 60-year old female with pseudoachondroplasia dwarfism presented 17 years post-operative with a Subjective Shoulder Value ...
Gregory Gasbarro   +5 more
doaj   +1 more source

Structural studies and functional engineering of NanX: an anhydro‐sialic acid transporter from Escherichia coli

open access: yesFEBS Open Bio, EarlyView.
Biophysical characterisation shows that NanX, a membrane transport protein from the major facilitator superfamily (MFS), forms both monomers and dimers after purification. AlphaFold modelling and substrate docking provide information on residues likely involved in substrate recognition for NanX and another MFS member, NanT.
Michael C. Newton‐Vesty   +13 more
wiley   +1 more source

Genetics of Height and Branching in Faba Bean (Vicia faba)

open access: yesAgronomy, 2020
A better understanding of the genetics of plant architecture, including height and branching, could improve faba bean breeding for varieties with better fit into specific cropping systems.
Jessa Hughes   +2 more
doaj   +1 more source

Added Prognostic Value of EEG Reactivity in Comatose Patients Following Cardiac Arrest

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To evaluate the added prognostic value of EEG reactivity for favorable outcome compared with background analysis during and after targeted temperature management (TTM). Methods Prospective observational cohort study of comatose post–cardiac arrest patients admitted to a single academic center between 2017 and 2022, all undergoing ...
Sarah Caroyer   +11 more
wiley   +1 more source

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