FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2767304881> ?p ?o ?g. }

• W2767304881 endingPage "1155" @default.
• W2767304881 startingPage "1138" @default.
• W2767304881 abstract "The NEMO-associated inherited diseases IP and EDA-ID, caused by mutations in the IKBKG gene, are highly suitable for studying the impact of these mutations on NEMO function. NEMO, the regulatory unit of the IKK complex, is essential for NF-κB signaling. Depending on the position of the mutation, the activity of NEMO and the outcome may differ, and can lead to pathologies such as IP, EDA-ID or certain cancers. The study of de novo mutations in the IKBKG gene, evoked partly due to genomic instability in this region, sheds light on how different NEMO domains contribute to NEMO function. The understanding of protein modifications and domain functions of NEMO may allow the rational design of therapeutic agents to better treat NF-κB-related diseases. Beside allo-HSCT, advanced techniques such as CRISPR/Cas9 editing could become tools for the potential treatment of genetic diseases associated with multiple mutations in IKBKG. The nuclear factor (NF)-κB essential modulator (NEMO) is a key regulator in NF-κB-mediated signaling. By transmitting extracellular or intracellular signals, NEMO can control NF-κB-regulated genes. NEMO dysfunction is associated with inherited diseases such as incontinentia pigmenti (IP), ectodermal dysplasia, anhidrotic, with immunodeficiency (EDA-ID), and some cancers. We focus on molecular studies, human case reports, and mouse models emphasizing the significance of NEMO molecular interactions and modifications in health and diseases. This knowledge opens new opportunities to engineer suitable drugs that may putatively target precise NEMO functions attributable to various diseases, while leaving other functions intact, and eliminating cytotoxicity. Indeed, with the advent of novel gene editing tools such as clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein (Cas)9, treating some inherited diseases may in the long run, become a reality. The nuclear factor (NF)-κB essential modulator (NEMO) is a key regulator in NF-κB-mediated signaling. By transmitting extracellular or intracellular signals, NEMO can control NF-κB-regulated genes. NEMO dysfunction is associated with inherited diseases such as incontinentia pigmenti (IP), ectodermal dysplasia, anhidrotic, with immunodeficiency (EDA-ID), and some cancers. We focus on molecular studies, human case reports, and mouse models emphasizing the significance of NEMO molecular interactions and modifications in health and diseases. This knowledge opens new opportunities to engineer suitable drugs that may putatively target precise NEMO functions attributable to various diseases, while leaving other functions intact, and eliminating cytotoxicity. Indeed, with the advent of novel gene editing tools such as clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein (Cas)9, treating some inherited diseases may in the long run, become a reality. most frequent malignant lymphoma characterized by striking heterogeneity with respect to biology, clinical presentation and prognosis. procedure in which a person receives from a genetically similar, but not identical healthy donor, blood-forming stem cells which differentiate into all blood cells. mutation in a gene, always leading to the loss of function of the gene product. short DNA, RNA or XNA molecules, which bind to specific target molecules. stage 4 of skin changes in the evolution of IP characterized by hypopigmentation and alopecia. new technique of genome-editing using a guide RNA (gRNA) to specifically target a genome region together with a DNA nuclease (Cas9). encompasses two or more α helices winding around each other. They might either turn in the same (parallel) or in the opposite (antiparallel) directions. method for the analysis of secondary structures of proteins involving circularly polarized light. enzymes that cleave ubiquitin attached to proteins. X-linked recessive disorder caused by a mutation in NEMO (IKBKG); includes various skin and appendage abnormalities, inflammation, and immunodeficiency. pluripotent cell derived from the inner cell mass of a blastocyst, representing a stage 4–5 days post-fertilization. ESCs can initiate all lineages (ecto-, endo-, and mesoderm) of the mature organism. inherited skin pathology. formed by the association of four guanines through Hoogsteen base pairing. motif characterized by two α helices that are connected by a loop. most common primary liver cancer in adults, closely linked to liver inflammation, viral hepatitis infection and toxins. stage 3 of skin changes in the evolution of IP, characterized by hyperpigmentation. mutation in a gene that leads only to partial loss of function of the gene product. transcription factor that responds to changes in available cellular oxygen levels. results from an X-linked recessive deficiency in NEMO (IKBKG). rare X-linked dominant disorder usually lethal prenatally in males; characterized by genodermatosis with a multisystemic and developmental phenotype. pluripotent cells generated from adult cells by induced expression of specific transcription factors. chromosomal condition that affects males. Most often it results from one extra copy of the X-chromosome per cell (XXY). proto-oncogene first described in the Kirsten rat sarcoma virus; gene encodes a GTPase. Mutations commonly associated with various cancers (e.g., lung) and other conditions. consists of a periodic repetition of a leucine residue at every seventh position thereby forming a α-helical conformation. ubiquitin ligase complex consisting of SHARPIN, HOIP, and HOIL-1, that generates Met1-linked linear ubiquitin chains. chronic condition in which excess fluid collects in tissues causing swelling. formation of a higher order lattice structure by accumulation of repetitive NEMO-dimers or multimers. a type of cytotoxic lymphocyte in the innate immune system, responding to viral infections and tumors. permanent alterations in the genomic nucleotide sequence causing: truncations of the protein (nonsense); insertion or deletion of nucleotides leading to an altered protein sequence (frame-shift); removal of an intron exon transition leading to a change in mRNA and protein sequence (splice site); change in a nucleotide which alters one amino acid (missense). peptide derived from the NBD of IKKα/β which selectively inhibits NF-κB by blocking the interaction of NEMO with the IKK complex. rare inherited disorder affecting bone remodeling due to defective or absent osteoclasts. segments of DNA resulting from duplications of real genes that have lost the functionality of the original gene, but may play essential roles as regulatory RNA. short peptide sequences attached to a cargo enabling the passage through tissue and cell membranes via energy-dependent or -independent mechanisms. device for measuring fast chemical kinetics. fatty liver disease caused by inflammation of the liver accompanied by fat deposition in the liver. rare disorder of the blood coagulation system that leads to microscopic blood clots in small blood vessels. a class of single, membrane-spanning, non-catalytic receptors recognizing structurally conserved molecules from pathogens. protein modification either leading to a degradation or a change in functionality of the ubiquitinylated protein. stage 2 of skin changes in the evolution of IP characterized by hypertrophic rash. stage 1 of skin changes in the evolution of IP characterized by erythema and blistering. process in which one copy of the X chromosome in females becomes inactivated. The X-inactive specific transcript (Xist), a large noncoding RNA, is responsible for inactivation. protein structural motif with the characteristic coordination of one or more zinc or metal ions to stabilize the protein fold. NEMO Links Nuclear Factor-κB to Human Diseases: (Trends Mol Med. , 1138–1155; 2017)Maubach et al.Trends in Molecular MedicineFebruary 15, 2018In BriefThe authors would like to rectify that an additional author (Ann-Christin Schmädicke, Institute of Experimental Internal Medicine, Otto von Guericke University, Magdeburg) contributed to the original article (Gunter Maubach, Ann-Christin Schmädicke, Michael Naumann). TMM and the authors apologize to the readers for this error. Full-Text PDF" @default.
• W2767304881 created "2017-11-17" @default.
• W2767304881 creator A5060964395 @default.
• W2767304881 creator A5079537121 @default.
• W2767304881 creator A5087375800 @default.
• W2767304881 date "2017-12-01" @default.
• W2767304881 modified "2023-09-26" @default.
• W2767304881 title "NEMO Links Nuclear Factor-κB to Human Diseases" @default.
• W2767304881 cites W1502772682 @default.
• W2767304881 cites W1527414463 @default.
• W2767304881 cites W1548219170 @default.
• W2767304881 cites W1554130371 @default.
• W2767304881 cites W1575400546 @default.
• W2767304881 cites W1629078953 @default.
• W2767304881 cites W1788543403 @default.
• W2767304881 cites W1792654735 @default.
• W2767304881 cites W1872462418 @default.
• W2767304881 cites W1876894627 @default.
• W2767304881 cites W1930056247 @default.
• W2767304881 cites W1952574243 @default.
• W2767304881 cites W1963904830 @default.
• W2767304881 cites W1965212957 @default.
• W2767304881 cites W1970953122 @default.
• W2767304881 cites W1971004025 @default.
• W2767304881 cites W1973023651 @default.
• W2767304881 cites W1978479647 @default.
• W2767304881 cites W1980902026 @default.
• W2767304881 cites W1982369831 @default.
• W2767304881 cites W1984036286 @default.
• W2767304881 cites W1984528964 @default.
• W2767304881 cites W1986141440 @default.
• W2767304881 cites W1989844987 @default.
• W2767304881 cites W1991131833 @default.
• W2767304881 cites W1995922730 @default.
• W2767304881 cites W1998615369 @default.
• W2767304881 cites W2000387935 @default.
• W2767304881 cites W2001879129 @default.
• W2767304881 cites W2002248601 @default.
• W2767304881 cites W2002529206 @default.
• W2767304881 cites W2008165708 @default.
• W2767304881 cites W2010725426 @default.
• W2767304881 cites W2016410864 @default.
• W2767304881 cites W2020572230 @default.
• W2767304881 cites W2025030639 @default.
• W2767304881 cites W2026512029 @default.
• W2767304881 cites W2028478497 @default.
• W2767304881 cites W2029454644 @default.
• W2767304881 cites W2033562377 @default.
• W2767304881 cites W2042911356 @default.
• W2767304881 cites W2043242737 @default.
• W2767304881 cites W2043915025 @default.
• W2767304881 cites W2045363689 @default.
• W2767304881 cites W2045991166 @default.
• W2767304881 cites W2051831012 @default.
• W2767304881 cites W2056759390 @default.
• W2767304881 cites W2057240378 @default.
• W2767304881 cites W2060154087 @default.
• W2767304881 cites W2061204287 @default.
• W2767304881 cites W2062040787 @default.
• W2767304881 cites W2066786548 @default.
• W2767304881 cites W2068037459 @default.
• W2767304881 cites W2069627042 @default.
• W2767304881 cites W2070413937 @default.
• W2767304881 cites W2073196430 @default.
• W2767304881 cites W2073453659 @default.
• W2767304881 cites W2073654131 @default.
• W2767304881 cites W2074517544 @default.
• W2767304881 cites W2084853093 @default.
• W2767304881 cites W2091161875 @default.
• W2767304881 cites W2092373934 @default.
• W2767304881 cites W2092382164 @default.
• W2767304881 cites W2093396272 @default.
• W2767304881 cites W2093433561 @default.
• W2767304881 cites W2096580246 @default.
• W2767304881 cites W2097254104 @default.
• W2767304881 cites W2097724407 @default.
• W2767304881 cites W2102783503 @default.
• W2767304881 cites W2106997984 @default.
• W2767304881 cites W2110718609 @default.
• W2767304881 cites W2114338479 @default.
• W2767304881 cites W2118886449 @default.
• W2767304881 cites W2122723511 @default.
• W2767304881 cites W2125548716 @default.
• W2767304881 cites W2129483753 @default.
• W2767304881 cites W2130497192 @default.
• W2767304881 cites W2138465485 @default.
• W2767304881 cites W2138934663 @default.
• W2767304881 cites W2143086969 @default.
• W2767304881 cites W2146295783 @default.
• W2767304881 cites W2150234903 @default.
• W2767304881 cites W2150285359 @default.
• W2767304881 cites W2152630268 @default.
• W2767304881 cites W2153772836 @default.
• W2767304881 cites W2154440027 @default.
• W2767304881 cites W2155246432 @default.
• W2767304881 cites W2157385415 @default.
• W2767304881 cites W2163966171 @default.
• W2767304881 cites W2178122275 @default.

• next