“…Abbreviations: ACTB, actin beta; ALKBH5, alkB homolog 5, RNA demethylase; ANXA5, annexin A5; ATG, autophagy-related; BafA, bafilomycin A(1); CASP3, caspase 3; ELAVL1, ELAV like RNA binding protein 1; FTO, FTO, alpha-ketoglutarate dependent dioxygenase; GFP, green fluorescent protein; GST, glutathione S-transferase; HNRNPD, heterogeneous nuclear ribonucleoprotein D; H/R, hypoxia/reoxygenation; I/R, ischemia/reperfusion; LAD, left anterior descending; m(6)A, N(6)-methyladenosine; MEFs, mouse embryo fibroblasts; Mer, mutated estrogen receptor domains; METTL3, methyltransferase like 3; METTL14, methyltransferase like 14; mRFP, monomeric red fluorescent protein; MTORC1, mechanistic target of rapamycin kinase complex 1; NMVCs, neonatal mouse ventricular cardiomyocytes; PCNA, proliferating cell nuclear antigen; PE, phosphatidylethanolamine; PI, propidium iodide; PTMs, post-translational modifications; PVDF, polyvinylidenedifluoride; RIP, RNA-immunoprecipitation; siRNA, small interfering RNA; SQSTM1, sequestosome 1; TFEB, transcription factor EB; TUBA: tublin alpha; WTAP, WT1 associated protein; YTHDF, YTH N6-methyladenosine RNA binding protein…”
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“…In an effort to understand alterations that drive AML development and progression, The Cancer Genome Atlas detailed the most common recurrent mutations. One gene of interest identified here was HNRNPK, supporting our clinical observations that suggest altered expression levels of HNRNPK and its corresponding protein (hnRNP K) may impact AML. …”
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“…Six patients developed treatment emergent (TE) resistance to one or both agents during the study; of which 4 patients developed TE major INI resistance mutations, 3 after W96. The median increase in CD4+ cell count from Baseline was 393 cells/mm(3) (−174 to 1118). …”
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“…Our goal was to determine the mutational spectrum in a cohort of 72 Spanish patients affected by one or more ectodermal derivative impairments referred to as HED (63/72) or NSTA (9 /72) to establish the prevalence of the allelic variants of the four most frequently associated genes. …”
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“…This study assumed that varieties of crop species continually arise from mutations, sexual reproduction and hybridization, among other processes, and some of them are favoured and maintained by humans. …”
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“…Dravet syndrome (DS) is a refractory epilepsy typically caused by heterozygous mutations of the Scn1a gene, which encodes the voltage-gated sodium channel Nav1.1. …”
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“…Studies have documented a number of mutations in the re-emerging strains of the virus that enhances mosquito adaptability and modulates virus infectivity. …”
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“…Genetic testing was positive for somatic mutations of NRAS, TERT, PTEN, and GNAS with broad copy number loss on chromosome 22q conferring aggressive tumor behavior.(3) MRI of the brain and spine ruled out additional metastases. …”
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“…Background: X-linked hypophosphataemia is the most common heritable form of rickets in children, disorder caused by mutations in PHEX, leading to elevated secretion of FGF23, renal phosphate wasting with consequent hypophosphataemia, diminish synthesis of 1,25(OH)2 vitamin D, rickets/osteomalacia, and disproportionate short stature. …”
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“…Apart from recent advances in treating ATCs in pts with BRAF mutations, systemic treatments have limited efficacy and duration of response is short. …”
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“…HNF4α is a known regulator of gluconeogenesis and is mutated in maturity onset diabetes of the young one (MODY1). …”
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“…BACKGROUND: Germline mutations in fibroblast growth factor receptor (FGFR) genes 1-3 can cause skeletal dysplasias and craniosynostoses. …”
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“…Different entities which are accompanied by multiple lipomas include Proteus syndrome, Cowden syndrome and related disorders due to PTEN gene mutations, MEN1, benign symmetric lipomatosis (Madelung or Launois-Bensaude disease), Dercum’s Disease, familial lipodystrophy, hibernomas, epidural lipomatosis, familial angiolipomatosis, and meso-somatous lipomatosis (LMS) still called Roch-Leri lipomatosis. …”
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“…Background DICER1 syndrome is an autosomal dominant condition due to mutations in the DICER1 gene, located on chromosome 14q32.13. …”
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“…Monogenic causes of central precocious puberty (CPP) were identified in families with loss-of-function mutations affecting mainly the coding region of two paternally expressed imprinted genes: Makorin ring finger 3 (MKRN3) and Delta-like 1 homolog (DLK1). …”
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“…In particular, Zn(2+)-coordinated Cys139 and Cys142 mutations eliminated the H(2)O(2) oxidation of PerR, and inductively coupled plasma mass spectrometry detected significantly decreased amounts of Zn(2+) in H(2)O(2)-treated PerR, demonstrating that cysteine oxidation results in Zn(2+) loss. …”
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“…Alanine substitutions of unique D2L5 loop cysteines of LCa(V)3 channels increases relative monovalent ion current sizes and increases the potency of Zn(2+) and Ni(2+) block by ~ 50× and ~ 10× in loop cysteine mutated channels respectively, acquiring characteristics of the high affinity block of Ca(V)3.2 channels, including the loss of the slowing of inactivation kinetics during Zn(2+) block. …”
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“…Tremendous advancement in surgery, chemotherapy, radiation and targeted immunotherapy have improved the rate of cure and disease-free survival. As genetic mutations vary in different cancers, potential of customized treatment to silence the problem gene/s at the translational level is being explored too. …”
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“…MAIN OUTCOMES AND MEASURES: Frequency of LoF variants in cancer risk genes (defined in the Catalogue of Somatic Mutations in Cancer–Cancer Gene Consensus database), were statistically assessed by binomial tests in patients with CHD and control participants. …”
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“…EZH2 high expression or its synergistic action with KRAS and BRAF mutations affects the prognosis of non-small-cell lung cancer.…”
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