Results 51 to 60 of about 1,544,422 (378)

CINCA Syndrome With New NLRP3 Mutation and Unreported Complication of Thyroid Carcinoma

Clinical Medicine Insights: Case Reports, 2019
Background: Chronic infantile neurologic cutaneous and articular syndrome (CINCA) is the most severe phenotype of cryopyrin-associated periodic syndromes (CAPS) and is caused by a missense mutation in NLRP3 gene.
Farhad Salehzadeh, Manuchehr Barak, Saied Hosseiniasl, Ehsan Shahbazfar   +3 more
doaj   +1 more source

Nonsense and missense mutation of mitochondrial ND6 gene promotes cell migration and invasion in human lung adenocarcinoma

BMC Cancer, 2015
BackgroundPrevious study showed that mitochondrial ND6 (mitND6) gene missense mutation resulted in NADH dehydrogenase deficiency and was associated with tumor metastasis in several mouse tumor cell lines.
Yang Yuan, Weixing Wang, Hui-Zi Li, Yongwei Yu, Jing Tao, Sheng-dong Huang, Zhiyong Zeng   +6 more
semanticscholar   +1 more source

Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship

Haematologica, 2010
Background The most frequent form of congenital dyserythropoietic anemia is the type II form. Recently it was shown that the vast majority of patients with congenital dyserythropoietic anemia type II carry mutations in the SEC23B gene.
Achille Iolascon, Roberta Russo, Maria Rosaria Esposito, Roberta Asci, Carmelo Piscopo, Silverio Perrotta, Madeleine Fénéant-Thibault, Loïc Garçon, Jean Delaunay   +8 more
doaj   +1 more source

Population-based estimate of prostate cancer risk for carriers of the HOXB13 missense mutation G84E. [PDF]

PLoS ONE, 2013
The HOXB13 missense mutation G84E (rs138213197) is associated with increased risk of prostate cancer, but the current estimate of increased risk has a wide confidence interval (width of 95% confidence interval (CI) >200-fold) so the point estimate of 20 ...
Robert J MacInnis, Gianluca Severi, Laura Baglietto, James G Dowty, Mark A Jenkins, Melissa C Southey, John L Hopper, Graham G Giles   +7 more
doaj   +1 more source

Genetic regulation of pituitary gland development in human and mouse [PDF]

, 2009
Normal hypothalamopituitary development is closely related to that of the forebrain and is dependent upon a complex genetic cascade of transcription factors and signaling molecules that may be either intrinsic or extrinsic to the developing Rathke’s ...
Aarskog, Acampora, Agarwal, Aijaz, Alba, Ambrosetti, Ambrosetti, Andersen, Andersen, Andersen, Andoniadou, Arroyo, Asteria, Avilion, Bach, Bakrania, Bao, Barnhart, Bartke, Bartke, Bhangoo, Bhati, Bilodeau, Blankenstein, Bodner, Boncinelli, Bonnefont, Böttner, Briata, Brickman, Brinkmeier, Brinkmeier, Brown, Brown, Cai, Carvalho, Castinetti, Cattanach, Cha, Charles, Charles, Chassaing, Chatelain, Chen, Chou, Christian, Cogan, Cohen, Cohen, Cohen, Cohen, Corneli, Couly, Couly, Coya, Cushman, Cushman, Daikoku, Daniel Kelberman, Dasen, Dasen, Dateki, Dattani, Davis, De Moerlooze, de Zegher, Deladoëy, Diaczok, Dodé, Douglas, Driever, Drouin, Duquesnoy, Dutta, Ellsworth, Ericson, Ezzat, Faivre, Falardeau, Fantes, Fauquier, Ferrand, Ferri, Flück, Fofanova, Fofanova, Fofanova, Gage, Gage, Gage, Gage, Gaston-Massuet, Gat-Yablonski, Gat-Yablonski, Gleiberman, Gleiberman, Gordon, Granger, Guichet, Hagstrom, Hamel, Hashimoto, Hayward, Hendriks-Stegeman, Hermesz, Hertzano, Himes, Hol, Holl, Hökfelt, Huang, Hui, Hume, Iain C. A. F. Robinson, Idrees, Ikeda, Ingraham, Irie, Japón, Jean, Kan, Karine Rizzoti, Kawamura, Kawamura, Kelberman, Kelberman, Kelberman, Kimura, Kioussi, Kishimoto, Kita, Kitamura, Kouki, Kriström, Kurokawa, Kurokawa, Lagerström-Fermér, Lamolet, Lamonerie, Lanctôt, Lanctôt, Laumonnier, Le Tissier, Lebl, Lemos, Li, Li, Li, Li, Lim, Lin, Lin, Lindsay, Liu, Lourenço, López-Ríos, Lu, Luo, Machinis, Machinis, Malvagia, Mansukhani, Martinez-Barbera, McGillivray, McLennan, McNay, Mehul T. Dattani, Mendonca, Metherell, Miyata, Morceau, Murray, Naiche, Nasonkin, Netchine, Ngan, Nolen, Norlin, Nose, Nudi, Ohta, Ohuchi, Okamoto, Olson, Olson, Osorio, Osumi-Yamashita, Pabst, Paracchini, Parkin, Parks, Patel, Pellegrini-Bouiller, Pernasetti, Pernasetti, Pfaeffle, Pfaeffle, Pfaffle, Pfäffle, Phillips 3rd, Pitteloud, Pogoda, Potok, Poulin, Pulichino, Pulichino, Qi, Quentien, Radovick, Raetzman, Raetzman, Raetzman, Ragge, Ragge, Rainbow, Rajab, Raverot, Rayapureddi, Reynaud, Reynaud, Rhinn, Rhodes, Rhodes, Riepe, Rizzoti, Rizzoti, Rizzoti, Robin Lovell-Badge, Rodrigues Martineli, Roessler, Roessler, Rubenstein, Sadovsky, Sajedi, Sajedi, Salemi, Salisbury, Sato, Savage, Scaffidi, Semina, Semina, Semina, Sheng, Sheng, Sheng, Sheng, Shinkai, Shinoda, Simmons, Sisodiya, Sloop, Sloop, Sloop, Snabboon, Sobrier, Sobrier, Sobrier, Sornson, Stahl, Steger, Suh, Sun, Susa, Szeto, Szeto, Tajima, Tajima, Tajima, Takuma, Tang, Tatsumi, Tatsumi, Thomas, Thomas, Thomas, Thomas, Tierney, Tootle, Treier, Treier, Tremblay, Tremblay, Tremblay, Tremblay, Tsai, Turton, Turton, Urs, Vallette-Kasic, Vallette-Kasic, Vesper, Vieira, Vieira, Vimpani, Voutetakis, Voutetakis, Wales, Ward, Ward, Ward, Watanabe, Watanabe, Weintrob, Weiss, West, Williamson, Winnier, Wit, Wood, Woods, Wu, Wyatt, Xu, Yamada, Zenteno, Zhang, Zhao, Zhao, Zhu, Zhu, Zorn   +321 more
core   +2 more sources

Circuit topology predicts pathogenicity of missense mutations

Proteins: Structure, Function, and Bioinformatics, 2022
AbstractThe contact topology of a protein determines important aspects of the folding process. The topological measure of contact order has been shown to be predictive of the rate of folding. Circuit topology is emerging as another fundamental descriptor of biomolecular structure, with predicted effects on the folding rate. We analyze the residue‐based
Jaie Woodard, Sumaiya Iqbal, Alireza Mashaghi   +2 more
openaire   +3 more sources

Novel missense MTTP gene mutations causing abetalipoproteinemia [PDF]

Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, 2014
The microsomal triglyceride transfer protein (MTTP) plays a critical role in the formation of hepatic very low density lipoprotein. Abetalipoproteinemia (ABL) is a rare, naturally occurring extreme form of MTTP inhibition, which is characterized by the virtual absence of apolipoprotein (apo) B-containing lipoproteins in blood.
Sharon A, Miller, John R, Burnett, Mike A, Leonis, C James, McKnight, Frank M, van Bockxmeer, Amanda J, Hooper   +5 more
openaire   +2 more sources

Congenital ichthyosiform erythroderma with a novel variant in ABCA12 in a Chinese patient

Pediatric Investigation, 2020
Introduction Congenital ichthyosiform erythroderma (CIE ) is characterized by fine, whitish scales on a background of erythematous skin over the whole body; it is reportedly caused by mutations in ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, NIPAL4, PNPLA1 ...
Zhou Yang, Zhan Qi, Zhe Xu, Wei Li, Lin Ma   +4 more
doaj   +1 more source

Case report: ALK D1225N missense mutation in lung adenocarcinoma responds to tyrosine kinase inhibitors

Frontiers in Pharmacology, 2023
ALK gene missense mutations are conventionally considered non-driver mutations without pathological significance, and therefore, there is a lack of effective target drugs against them.
Jianxin Chen, Junhui Wang
doaj   +1 more source

Report of a de novo c.2605C > T (p.Pro869Ser) change in the MED13L gene and review of the literature for MED13L-related intellectual disability

Italian Journal of Pediatrics, 2020
Background MED13L-related intellectual disability is a new syndrome that is characterized by intellectual disability (ID), motor developmental delay, speech impairment, hypotonia and facial dysmorphism.
Zhi Yi, Ying Zhang, Zhenfeng Song, Hong Pan, Chengqing Yang, Fei Li, Jiao Xue, Zhenghai Qu   +7 more
doaj   +1 more source