Supplementary Table A from 250K Single Nucleotide Polymorphism Array Karyotyping Identifies Acquired Uniparental Disomy and Homozygous Mutations, Including Novel Missense Substitutions of <i>c-Cbl</i>, in Myeloid Malignancies [PDF]
, 2023 Andrew Dunbar +9 more
openalex +1 more source
Advanced Science, EarlyView.The Phospholamban (PLN) R9C mutation reduces SERCA2a binding, increasing calcium recycling and baseline contractility. However, the excess of free PLN promotes pentamer formation, limiting phosphorylation and blunting β‐adrenergic signaling. Under cardiac stress, enhanced functional demands overwhelm proteostasis in PLN R9C cells, leading to misfolded ...
Qi Yu +10 more
wiley +1 more source
Stem Cell ResearchX-linked Ohdo syndrome is a heterogenous group of disorders characterized by intellectual disability and typical facial features including blepharophimosis.
Hiroki Ura +3 more
doaj +1 more source
The prognostic value of TP53 mutations in hypopharyngeal squamous cell carcinoma
BMC Cancer, 2017 Background TP53 is the most frequently mutated gene in human cancers. Previous studies reported that TP53 mutations correlated with poor prognoses in patients with head and neck squamous cell carcinoma (HNSCC).
Go Omura +9 more
doaj +1 more source
Red Blood Cell‐Derived Exosomal miR‐93‐5p Promotes Lung Cancer Progression through PTEN Suppression
Advanced Science, EarlyView.Red blood cell (RBC)‐derived exosomal miR‐93‐5p is elevated in lung cancer patients and correlates with poor outcomes. Exosomal miR‐93‐5p suppresses PTEN in cancer cells, enhancing proliferation, migration, and invasion. In mouse models, therapeutic inhibition with ASO‐miR‐93 5p reduces tumor growth, highlighting a bidirectional tumor‐RBC‐tumor axis ...
Ning Li +4 more
wiley +1 more source
Clinical case seminar - Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita [PDF]
, 2002 Mutations in the orphan nuclear receptor DAX-1 cause X-linked adrenal hypoplasia congenita. Affected boys usually present with primary adrenal failure in early infancy or childhood.
Achermann, JC +8 more
core
A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal Dysplasia
PLoS ONE, 2013 Craniometaphyseal dysplasia (CMD) is a rare sclerosing skeletal disorder with progressive hyperostosis of craniofacial bones. CMD can be inherited in an autosomal dominant (AD) trait or occur after de novo mutations in the pyrophosphate transporter ANKH.
Ying Hu +7 more
semanticscholar +1 more source
Bioinformatics Profiling Of Missense Mutations
, 2009 The ability to distinguish missense nucleotide substitutions that contribute to harmful effect from those that do not is a difficult problem usually accomplished through functional in vivo analyses. In this study, instead current biochemical methods, the effects of missense mutations upon protein structure and function were assayed by means of ...
I. Nassiri, B. Goliaei, M. Tavassoli
openaire +1 more source
Lipid Droplet‐Localized Spindle Apparatus Coiled‐Coil Protein 1 Regulates Lipid Droplet Distribution
Advanced Science, EarlyView.SPDL1‐L, a long isoform of SPDL1, is identified as a bona fide lipid droplet‐associated protein that acts as a dynein adaptor to drive perinuclear clustering of lipid droplets. By linking lipid droplets to the microtubule network, SPDL1‐L extends the function of SPDL1 beyond mitosis and contributes to lipid droplet organization and nuclear remodeling ...
Honggang Su +10 more
wiley +1 more source
Pakistan Armed Forces Medical Journal, 2018 Objective: To identify the phenotype and genotype of hypodontia for a Pakistani family with hypodontia and to map the genes locus responsible for this disease. Study Design: Descriptive study.
Muhammad Nawaz +4 more
doaj