Etiopathogenetic Mechanisms in Diverticular Disease of the Colon
Tài liệu tham khảo
Everhart, 2009, Burden of digestive diseases in the United States part II: lower gastrointestinal diseases, Gastroenterology, 136, 741, 10.1053/j.gastro.2009.01.015
Peery, 2016, Distribution and characteristics of colonic diverticula in a United States screening population, Clin Gastroenterol Hepatol, 14, 980, 10.1016/j.cgh.2016.01.020
Ye, 2005, Diverticulosis coli: update on a "Western" disease, Adv Anat Pathol, 12, 74, 10.1097/01.pap.0000155054.76119.dc
Sugihara, 1989, Diverticular disease of the colon in Japan. A review of 615 cases, Dis Colon Rectum, 27, 531, 10.1007/BF02555517
Lohsiriwat, 2013, Pattern and distribution of colonic diverticulosis: Analysis of 2877 barium enemas in Thailand, World J Gastroenterol, 19, 8709, 10.3748/wjg.v19.i46.8709
Tarao, 2015, Recent trends in colonic diverticulosis in Yokohama City: a possibility of changing to a more Western profile, Intern Med, 54, 2545, 10.2169/internalmedicine.54.4813
Shahedi, 2013, Long-term risk of acute diverticulitis among patients with incidental diverticulosis found during colonoscopy, Clin Gastroenterol Hepatol, 11, 1609, 10.1016/j.cgh.2013.06.020
Peery, 2019, Burden and cost of gastrointestinal, liver, and pancreatic diseases in the United States: update 2018, Gastroenterology, 156, 254, 10.1053/j.gastro.2018.08.063
Strate, 2015, American Gastroenterological Association Institute technical review on the management of acute diverticulitis, Gastroenterology, 149, 1950, 10.1053/j.gastro.2015.10.001
van Dijk, 2019, Dutch Diverticular Disease (3D) Collaborative Study Group. Quality of life and persistent symptoms after uncomplicated acute diverticulitis, Dis Colon Rectum, 62, 608, 10.1097/DCR.0000000000001361
Strate, 2012, Diverticular disease as a chronic illness: evolving epidemiologic and clinical insights, Am J Gastroenterol, 107, 1486, 10.1038/ajg.2012.194
Cohen, 2013, Increased risk for irritable bowel syndrome after acute diverticulitis, Clin Gastroenterol Hepatol, 11, 1614, 10.1016/j.cgh.2013.03.007
Strate, 2019, Epidemiology, pathophysiology, and treatment of diverticulitis, Gastroenterology, 156, 1282, 10.1053/j.gastro.2018.12.033
Wedel, 2015, Morphologic basis for developing diverticular disease, diverticulitis, and diverticular bleeding, Viszeralmedizin, 31, 76
Scarpignato, 2018, Management of colonic diverticular disease in the third millennium: Highlights from a symposium held during the United European Gastroenterology Week 2017, Therap Adv Gastroenterol, 11, 10.1177/1756284818771305
Peery, 2018, Colonic diverticula are not associated with mucosal inflammation or chronic gastrointestinal symptoms, Clin Gastroenterol Hepatol, 16, 884, 10.1016/j.cgh.2017.05.051
Järbrink-Sehgal, 2019, Diverticulosis, symptoms and colonic inflammation: A population-based colonoscopy study, Am J Gastroenterol, 114, 500, 10.14309/ajg.0000000000000113
Granlund, 2012, The genetic influence on diverticular disease--a twin study, Aliment Pharmacol Ther, 35, 1103
Strate, 2013, Heritability and familial aggregation of diverticular disease: a population-based study of twins and siblings, Gastroenterology, 144, 736, 10.1053/j.gastro.2012.12.030
Painter, 1971, Diverticular disease of the colon: a deficiency disease of Western civilization, Br Med J, 2, 450, 10.1136/bmj.2.5759.450
Painter, 1965, Segmentation and the localization of intraluminal pressures in the human colon, with special reference to the pathogenesis of colonic diverticula, Gastroenterology, 49, 169, 10.1016/S0016-5085(19)34563-9
Peery, 2013, Constipation and a low-fiber diet are not associated with diverticulosis, Clin Gastroenterol Hepatol, 11, 1622, 10.1016/j.cgh.2013.06.033
Peery, 2012, A high-fiber diet does not protect against asymptomatic diverticulosis, Gastroenterology, 142, 266, 10.1053/j.gastro.2011.10.035
Broad, 2019, Diverticulosis and nine connective tissue disorders: epidemiological support for an association, Connect Tissue Res, 60, 389, 10.1080/03008207.2019.1570169
Reichert, 2015, The genetic epidemiology of diverticulosis and diverticular disease: Emerging evidence, United European Gastroenterol J, 3, 409, 10.1177/2050640615576676
Ford, 1995, Differences in colonic tone and phasic response to a meal in the transverse and sigmoid human colon, Gut, 37, 264, 10.1136/gut.37.2.264
Steadman, 1991, Variation of muscle tone in the human colon, Gastroenterology, 101, 373, 10.1016/0016-5085(91)90014-C
Mimura, 2004, Up-regulation of collagen and tissue inhibitors of matrix metalloproteinase in colonic diverticular disease, Dis Colon Rectum, 47, 371, 10.1007/s10350-003-0050-5
Pantaroto, 2015, Comparative study of collagen deposition in the colon wall of patients operated for sigmoid diverticular disease, Acta Cir Bras, 30, 715, 10.1590/S0102-865020150100000010
Stumpf, 2001, Increased distribution of collagen type III and reduced expression of matrix metalloproteinase 1 in patients with diverticular disease, Int J Colorectal Dis, 16, 271, 10.1007/s003840100310
Wess, 1995, Cross linking of collagen is increased in colonic diverticulosis, Gut, 37, 91, 10.1136/gut.37.1.91
Thomson, 1987, Submucosal collagen changes in the normal colon and in diverticular disease, Int J Colorectal Dis, 2, 208, 10.1007/BF01649507
Hellwig, 2014, Alterations of the enteric smooth musculature in diverticular disease, J Gastroenterol, 49, 1241, 10.1007/s00535-013-0886-y
Altadill, 2012, Comparative analysis of the expression of metalloproteases and their inhibitors in resected crohn's disease and complicated diverticular disease, Inflamm Bowel Dis, 18, 120, 10.1002/ibd.21682
Bode, 2000, Type I and III collagens in human colon cancer and diverticulosis, Scand J Gastroenterol, 35, 747, 10.1080/003655200750023435
Peery, 2019, Association of obesity with colonic diverticulosis in women, Clin Gastroenterol Hepatol
Kanda, 2005, Regulatory roles of sex hormones in cutaneous biology and immunology, J Dermatol Sci, 38, 1, 10.1016/j.jdermsci.2004.10.011
Leblanc, 2017, The effect of estrogen on tendon and ligament metabolism and function, J Steroid Biochem Mol Biol, 172, 106, 10.1016/j.jsbmb.2017.06.008
Tworoger, 2006, Birthweight and body size throughout life in relation to sex hormones and prolactin concentrations in premenopausal women, Cancer Epidemiol Biomarkers Prev, 15, 2494, 10.1158/1055-9965.EPI-06-0671
Jones, 2018, An aberrant microbiota is not strongly associated with incidental colonic diverticulosis, Sci Rep, 8, 4951, 10.1038/s41598-018-23023-z
Gallego, 2013, In vitro motor patterns and electrophysiological changes in patients with colonic diverticular disease, Int J Colorectal Dis, 28, 1413, 10.1007/s00384-013-1716-7
Mattii, 2013, Altered expression pattern of molecular factors involved in colonic smooth muscle functions: an immunohistochemical study in patients with diverticular disease, PLoS One, 8, 10.1371/journal.pone.0057023
Böttner, 2013, The enteric serotonergic system is altered in patients with diverticular disease, Gut, 62, 1753, 10.1136/gutjnl-2012-302660
Bassotti, 2005, Alterations in colonic motility and relationship to pain in colonic diverticulosis, Clin Gastroenterol Hepatol, 3, 248, 10.1016/S1542-3565(04)00614-7
Liu, 2017, Adherence to a healthy lifestyle is associated with a lower risk of diverticulitis among men, Am J Gastroenterol, 112, 1868, 10.1038/ajg.2017.398
Bharucha, 2015, Temporal trends in the incidence and natural history of diverticulitis: a population-based study, Am J Gastroenterol, 110, 1589, 10.1038/ajg.2015.302
Jovani, 2019, Menopausal hormone therapy and risk of diverticulitis, Am J Gastroenterol, 114, 315, 10.14309/ajg.0000000000000054
Ma, 2018, Association between obesity and weight change and risk of diverticulitis in women, Gastroenterology, 155, 58, 10.1053/j.gastro.2018.03.057
Cao, 2018, Meat intake and risk of diverticulitis among men, Gut, 67, 466, 10.1136/gutjnl-2016-313082
Strate, 2017, Western dietary pattern increases, and prudent dietary pattern decreases, risk of incident diverticulitis in a prospective cohort study, Gastroenterology, 152, 1023, 10.1053/j.gastro.2016.12.038
Strate, 2009, Physical activity decreases diverticular complications, Am J Gastroenterol, 104, 1221, 10.1038/ajg.2009.121
Strate, 2009, Obesity increases the risks of diverticulitis and diverticular bleeding, Gastroenterology, 136, 115, 10.1053/j.gastro.2008.09.025
Strate, 2011, Use of aspirin or nonsteroidal anti-inflammatory drugs increases risk for diverticulitis and diverticular bleeding, Gastroenterology, 140, 1427, 10.1053/j.gastro.2011.02.004
Sachar, 2008, Diverticulitis in immunosuppressed patients, J Clin Gastroenterol, 42, 1154, 10.1097/MCG.0b013e3181862ac1
Young-Fadok, 2019, Diverticulitis, N Engl J Med, 380, 500, 10.1056/NEJMc1815667
Jovani, 2019, Association between bowel movements and diverticulitis in women, Gastroenterology, 156, S1069, 10.1016/S0016-5085(19)39636-2
Wedel, 2010, Diverticular disease is associated with an enteric neuropathy as revealed by morphometric analysis, Neurogastroenterol Motil, 22, 407, 10.1111/j.1365-2982.2009.01445.x
Barrenschee, 2017, No neuronal loss, but alterations of the GDNF system in asymptomatic diverticulosis, PLoS One, 12, 10.1371/journal.pone.0171416
Golder, 2007, Longitudinal muscle shows abnormal relaxation responses to nitric oxide and contains altered levels of NOS1 and elastin in uncomplicated diverticular disease, Colorectal Dis, 9, 218, 10.1111/j.1463-1318.2006.01160.x
Coble, 2017, Identification of a rare LAMB4 variant associated with familial diverticulitis through exome sequencing, Hum Mol Genet, 26, 3212
Rosemar, 2007, Increased concentration of tissue-degrading matrix metalloproteinases and their inhibitor in complicated diverticular disease, Scand J Gastroenterol, 42, 215, 10.1080/00365520600960104
Whiteway, 1985, Elastosis in diverticular disease of the sigmoid colon, Gut, 26, 258, 10.1136/gut.26.3.258
Daniels, 2014, A hypothesis: important role for gut microbiota in the etiopathogenesis of diverticular disease, Dis Colon Rectum, 57, 539, 10.1097/DCR.0000000000000078
Nguyen, 2019, Chronic antibiotic use and subsequent development of diverticulitis, Gastroenterology, 156, S1155, 10.1016/S0016-5085(19)39858-0
Gueimonde, 2007, Qualitative and quantitative analyses of the bifidobacterial microbiota in the colonic mucosa of patients with colorectal cancer, diverticulitis and inflammatory bowel disease, World J Gastroenterol, 13, 3985, 10.3748/wjg.v13.i29.3985
Daniels, 2014, Fecal microbiome analysis as a diagnostic test for diverticulitis, Eur J Clin Microbiol Infect Dis, 33, 1927, 10.1007/s10096-014-2162-3
Hullar, 2014, The fecal microbiome in diverticulitis and uncomplicated diverticulosis, Gastroenterology, 146, S45, 10.1016/S0016-5085(14)60156-6
Hullar, 2017, The fecal microbiome differentiates patients with a history of diverticulitis v. those with uncomplicated diverticulosis, Gastroenterology, 152, S624, 10.1016/S0016-5085(17)32217-5
Humes, 2011, Concurrent drug use and the risk of perforated colonic diverticular disease: a population-based case-control study, Gut, 60, 219, 10.1136/gut.2010.217281
Ma, 2019, Inflammatory potential of diet, circulating inflammatory markers, and risk of diverticulitis, Gastroenterology, 156, S1056, 10.1016/S0016-5085(19)39600-3
Strate, 2014, Diverticular disease is associated with increased risk of subsequent arterial and venous thromboembolic events, Clin Gastroenterol Hepatol, 12, 1695, 10.1016/j.cgh.2013.11.026
Strate, 2016, ACG clinical guideline: Management of patients with acute lower gastrointestinal bleeding, Am J Gastroenterol, 111, 755, 10.1038/ajg.2016.155
Wheat, 2016, Trends in hospitalization for diverticulitis and diverticular bleeding in the United States from 2000 to 2010, Clin Gastroenterol Hepatol, 14, 96, 10.1016/j.cgh.2015.03.030
Okamoto, 2012, The association between arteriosclerosis related diseases and diverticular bleeding, Int J Colorectal Dis, 27, 1161, 10.1007/s00384-012-1491-x
Yuhara, 2014, Aspirin and non-aspirin NSAIDs increase risk of colonic diverticular bleeding: a systematic review and meta-analysis, J Gastroenterol, 49, 992, 10.1007/s00535-013-0905-z
Vajravelu, 2018, Incidence, risk factors, and clinical effects of recurrent diverticular hemorrhage: a large cohort study, Gastroenterology, 155, 1416, 10.1053/j.gastro.2018.07.026
Edwards, 1989, Relationship between energy expenditure and ion channel density in the turtle and rat brain, Am J Physiol, 257, R1354
Connelly, 2017, Diverticulitis and Crohn's disease have distinct but overlapping tumor necrosis superfamily 15 haplotypes, J Surg Res, 214, 262, 10.1016/j.jss.2017.02.030
Lee, 2017, Genome-wide association study identifies distinct genetic contributions to prognosis and susceptibility in Crohn's disease, Nat Genet, 49, 262, 10.1038/ng.3755
Liu, 2015, CA, Weersma RK. Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations, Nat Genet, 47, 979, 10.1038/ng.3359
Franchini, 2016, Relative risks of thrombosis and bleeding in different ABO blood groups, Semin Thromb Hemost, 42, 112
Huang, 2012, ABO blood group and the risk of gastrointestinal bleeding, Gastroenterology, 142, S503, 10.1016/S0016-5085(12)61928-3
Krämer, 2014, Causal analysis approaches in Ingenuity Pathway Analysis, Bioinformatics, 30, 523, 10.1093/bioinformatics/btt703
Yu, 2016, Ingenuity Pathway Analysis of gene expression profiles in distal nerve stump following nerve injury: Insights into Wallerian Degeneration, Front Cell Neurosci, 10, 274, 10.3389/fncel.2016.00274
Schafmayer, 2019, Genome-wide association analysis of diverticular disease points towards neuromuscular, connective tissue and epithelial pathomechanisms, Gut, 68, 854, 10.1136/gutjnl-2018-317619
Subramanian, 2005, Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles, Proc Natl Acad Sci U S A, 102, 15545, 10.1073/pnas.0506580102
Mishra, 2017, A novel approach for pathway analysis of GWAS data highlights role of BMP signaling and muscle cell differentiation in colorectal cancer susceptibility, Twin Res Hum Genet, 20, 1, 10.1017/thg.2016.100
Sigurdsson, 2017, Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis, Nat Commun, 8, 15789, 10.1038/ncomms15789
Maguire, 2018, Genome-wide association analyses identify 39 new susceptibility loci for diverticular disease, Nat Genet, 50, 1359, 10.1038/s41588-018-0203-z
Coyle, 2016, Use of anoctamin 1 (ANO1) to evaluate interstitial cells of Cajal in Hirschsprung's disease, Pediatr Surg Int, 32, 125, 10.1007/s00383-015-3822-9
Tang, 2015, Expression of TMEM16A in the colon of intractable functional constipation patients and its clinical implications, Zhonghua Wei Chang Wai Ke Za Zhi, 18, 713
Gomez-Pinilla, 2009, Ano1 is a selective marker of interstitial cells of Cajal in the human and mouse gastrointestinal tract, Am J Physiol Gastrointest Liver Physiol, 296, G1370, 10.1152/ajpgi.00074.2009
Smigiel, 2010, Severe clinical course of Hirschsprung disease in a Mowat-Wilson syndrome patient, J Appl Genet, 51, 111, 10.1007/BF03195718
Costa, 2011, The RacGAP ArhGAP15 is a master negative regulator of neutrophil functions, Blood, 118, 1099, 10.1182/blood-2010-12-324756
Zamboni, 2016, Disruption of ArhGAP15 results in hyperactive Rac1, affects the architecture and function of hippocampal inhibitory neurons and causes cognitive deficits, Sci Rep, 6, 34877, 10.1038/srep34877
Radu, 2013, ArhGAP15, a Rac-specific GTPase-activating protein, plays a dual role in inhibiting small GTPase signaling, J Biol Chem, 288, 21117, 10.1074/jbc.M113.459719
Seoh, 2003, ArhGAP15, a novel human RacGAP protein with GTPase binding property, FEBS Lett, 539, 131, 10.1016/S0014-5793(03)00213-8
Sigoillot, 2010, ColQ controls postsynaptic differentiation at the neuromuscular junction, J Neurosci, 30, 13, 10.1523/JNEUROSCI.4374-09.2010
2015, Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans, Science, 348, 648, 10.1126/science.1262110
Engel, 2015, Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment, Lancet Neurol, 14, 420, 10.1016/S1474-4422(14)70201-7
Ohno, 1998, Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme, Proc Natl Acad Sci U S A, 95, 9654, 10.1073/pnas.95.16.9654
Mori, 2011, Synchronous phosphorylation of CPI–17 and MYPT1 is essential for inducing Ca(2+) sensitization in intestinal smooth muscle, Neurogastroenterol Motil, 23, 1111, 10.1111/j.1365-2982.2011.01799.x
Hu, 2007, Upregulation of RGS4 and downregulation of CPI–17 mediate inhibition of colonic muscle contraction by interleukin-1beta, Am J Physiol Cell Physiol, 293, C1991, 10.1152/ajpcell.00300.2007
Somara, 2007, Ectopic expression of caveolin-1 restores physiological contractile response of aged colonic smooth muscle, Am J Physiol Gastrointest Liver Physiol, 293, G240, 10.1152/ajpgi.00064.2007
Li, 2018, Association between P2RY12 gene polymorphisms and adverse clinical events in coronary artery disease patients treated with clopidogrel: a systematic review and meta-analysis, Gene, 657, 69, 10.1016/j.gene.2018.03.007
von Kügelgen, 2017, Structure, pharmacology and roles in physiology of the P2Y12 receptor, Adv Exp Med Biol, 1051, 123, 10.1007/5584_2017_98
Chauhan, 2015, Involvement of receptor activity-modifying protein 3 (RAMP3) in the vascular actions of adrenomedullin in rat mesenteric artery smooth muscle cells, Biol Reprod, 93, 116, 10.1095/biolreprod.115.134585
Wang, 2018, Association of IL17RC and COL6A1 genetic polymorphisms with susceptibility to ossification of the thoracic posterior longitudinal ligament in Chinese patients, J Orthop Surg Res, 13, 109, 10.1186/s13018-018-0817-y
Butterfield, 2017, Transcriptome profiling identifies regulators of pathogenesis in collagen VI related muscular dystrophy, PLoS One, 12, 10.1371/journal.pone.0189664
Cescon, 2016, Lack of collagen VI promotes neurodegeneration by impairing autophagy and inducing apoptosis during aging, Aging (Albany NY), 8, 1083, 10.18632/aging.100924
Chen, 2014, Collagen VI regulates peripheral nerve myelination and function, FASEB J, 28, 1145, 10.1096/fj.13-239533
Soret, 2015, A collagen VI-dependent pathogenic mechanism for Hirschsprung's disease, J Clin Invest, 125, 4483, 10.1172/JCI83178
Bönnemann, 2011, The collagen VI-related myopathies: muscle meets its matrix, Nat Rev Neurol, 7, 379, 10.1038/nrneurol.2011.81
Cescon, 2018, Collagen VI is required for the structural and functional integrity of the neuromuscular junction, Acta Neuropathol, 136, 483, 10.1007/s00401-018-1860-9
Oltedal, 2018, Expression profiling and intracellular localization studies of the novel proline-, histidine-, and glycine-rich protein 1 suggest an essential role in gastro-intestinal epithelium and a potential clinical application in colorectal cancer diagnostics, BMC Gastroenterol, 18, 26, 10.1186/s12876-018-0752-8
Yamamoto, 2004, Review: ABO blood group system--ABH oligosaccharide antigens, anti-A and anti-B, A and B glycosyltransferases, and ABO genes, Immunohematology, 20, 3, 10.21307/immunohematology-2019-418
Madureira, 2012, The biochemistry and regulation of S100A10: a multifunctional plasminogen receptor involved in oncogenesis, J Biomed Biotechnol, 2012, 353687
Zhao, 2017, Signaling by growth/differentiation factor 5 through the bone morphogenetic protein receptor type IB protects neurons against kainic acid-induced neurodegeneration, Neurosci Lett, 651, 36, 10.1016/j.neulet.2017.04.055
Racacho, 2015, Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1, Eur J Hum Genet, 23, 1640, 10.1038/ejhg.2015.38
Wiberg, 2019, A genome-wide association analysis identifies 16 novel susceptibility loci for carpal tunnel syndrome, Nat Commun, 10, 1030, 10.1038/s41467-019-08993-6
Zhang, 2014, Genetic implication of a novel thiamine transporter in human hypertension, J Am Coll Cardiol, 63, 1542, 10.1016/j.jacc.2014.01.007
Khrimian, 2017, Gpr158 mediates osteocalcin's regulation of cognition, J Exp Med, 214, 2859, 10.1084/jem.20171320
Piaggi, 2017, A genome-wide association study using a custom genotyping array identifies variants in GPR158 associated with reduced energy expenditure in American Indians, Diabetes, 66, 2284, 10.2337/db16-1565
Ge, 2005, Interpreting expression profiles of cancers by genome-wide survey of breadth of expression in normal tissues, Genomics, 86, 127, 10.1016/j.ygeno.2005.04.008
Su, 2004, A gene atlas of the mouse and human protein-encoding transcriptomes, Proc Natl Acad Sci U S A, 101, 6062, 10.1073/pnas.0400782101
Boraxbekk, 2015, Investigating the influence of KIBRA and CLSTN2 genetic polymorphisms on cross-sectional and longitudinal measures of memory performance and hippocampal volume in older individuals, Neuropsychologia, 78, 10, 10.1016/j.neuropsychologia.2015.09.031
de Ramon Francàs, 2017, Calsyntenins are expressed in a dynamic and partially overlapping manner during neural development, Front Neuroanat, 11, 76, 10.3389/fnana.2017.00076
Rasmussen, 2016, Phenotypic subregions within the split-hand/foot malformation 1 locus, Hum Genet, 135, 345, 10.1007/s00439-016-1635-0
Usener, 2003, cTAGE: a cutaneous T cell lymphoma associated antigen family with tumor-specific splicing, J Invest Dermatol, 121, 198, 10.1046/j.1523-1747.2003.12318.x
Schellhaus, 2017, Developmentally regulated GTP binding protein 1 (DRG1) controls microtubule dynamics, Sci Rep, 7, 9996, 10.1038/s41598-017-10088-5
Lee, 2015, Slit and Semaphorin signaling governed by islet transcription factors positions motor neuron somata within the neural tube, Exp Neurol, 269, 17, 10.1016/j.expneurol.2015.03.024
Wang, 2017, Additional evidence supports association of common genetic variants in VTI1A and ETFA with increased risk of glioma susceptibility, J Neurol Sci, 375, 282, 10.1016/j.jns.2017.02.013
Edwards, 2013, Variants in BET1L and TNRC6B associate with increasing fibroid volume and fibroid type among European Americans, Hum Genet, 132, 1361, 10.1007/s00439-013-1340-1
Lin, 2013, Sorting nexin 24 genetic variation associates with coronary artery aneurysm severity in Kawasaki disease patients, Cell Biosci, 3, 44, 10.1186/2045-3701-3-44
Rohrbach, 2007, Age-associated loss in adiponectin-activation by caloric restriction: lack of compensation by enhanced inducibility of adiponectin paralogs CTRP2 and CTRP7, Mol Cell Endocrinol, 277, 26, 10.1016/j.mce.2007.07.005
Dick, 2011, Genome-wide association study of conduct disorder symptomatology, Mol Psychiatry, 16, 800, 10.1038/mp.2010.73
Ochaba, 2016, PIAS1 regulates mutant huntingtin accumulation and Huntington's disease-associated phenotypes in vivo, Neuron, 90, 507, 10.1016/j.neuron.2016.03.016
Farrell, 2017, HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia, Am J Med Genet A, 173, 3070, 10.1002/ajmg.a.38354
Rajaraman, 2010, Downstream targets of homeobox gene HLX show altered expression in human idiopathic fetal growth restriction, Am J Pathol, 176, 278, 10.2353/ajpath.2010.090187
Suttner, 2009, HLX1 gene variants influence the development of childhood asthma, J Allergy Clin Immunol, 123, 82, 10.1016/j.jaci.2008.09.047
Rose, 2010, Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score, Mol Med, 16, 247, 10.2119/molmed.2009.00159
Szafranski, 2016, Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins, Hum Genet, 135, 569, 10.1007/s00439-016-1655-9
Katoh, 2005, Hedgehog signaling pathway and gastric cancer, Cancer Biol Ther, 4, 1050, 10.4161/cbt.4.10.2184
Soldatov, 2015, CACNB2: An emerging pharmacological target for hypertension, heart failure, arrhythmia and mental disorders, Curr Mol Pharmacol, 8, 32, 10.2174/1874467208666150507093258
Papaioannou, 2018, Alterations of EDEM1 functions enhance ATF6 pro-survival signaling, FEBS J, 285, 4146, 10.1111/febs.14669
Palmieri, 2013, The mitochondrial transporter family SLC25: identification, properties and physiopathology, Mol Aspects Med, 34, 465, 10.1016/j.mam.2012.05.005
Cordat, 2014, Structure, function, and trafficking of SLC4 and SLC26 anion transporters, Curr Top Membr, 73, 1, 10.1016/B978-0-12-800223-0.00001-3
Xu, 2017, Mutations in the spliceosome component CWC27 cause retinal degeneration with or without additional developmental anomalies, Am J Hum Genet, 100, 592, 10.1016/j.ajhg.2017.02.008