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DNAH11 variants and its association with congenital heart disease and heterotaxy syndrome.
Liu S, Chen W, Zhan Y, Li S, Ma X, Ma D, Sheng W, Huang G. Liu S, et al. Sci Rep. 2019 Apr 30;9(1):6683. doi: 10.1038/s41598-019-43109-6. Sci Rep. 2019. PMID: 31040315 Free PMC article.
Thirty-four potential disease-causing heterozygous variants in 11 genes were identified in the 19 CHD patients with heterotaxy syndrome (45.2%, 19/42). The DNAH11 gene showed the highest mutation rate (16.7%; 14 of 84 alleles) among the CHD patients with heterotaxy. …
Thirty-four potential disease-causing heterozygous variants in 11 genes were identified in the 19 CHD patients with heterotaxy syndro …
Genetic architecture of laterality defects revealed by whole exome sequencing.
Li AH, Hanchard NA, Azamian M, D'Alessandro LCA, Coban-Akdemir Z, Lopez KN, Hall NJ, Dickerson H, Nicosia A, Fernbach S, Boone PM, Gambin T, Karaca E, Gu S, Yuan B, Jhangiani SN, Doddapaneni H, Hu J, Dinh H, Jayaseelan J, Muzny D, Lalani S, Towbin J, Penny D, Fraser C, Martin J, Lupski JR, Gibbs RA, Boerwinkle E, Ware SM, Belmont JW. Li AH, et al. Eur J Hum Genet. 2019 Apr;27(4):563-573. doi: 10.1038/s41431-018-0307-z. Epub 2019 Jan 8. Eur J Hum Genet. 2019. PMID: 30622330 Free PMC article.
A total of 28 candidate variants (26 rare predicted-damaging variants and 2 hemizygous deletions) were identified, including variants in genes known to cause heterotaxy and primary ciliary dyskinesia (ACVR2B, NODAL, ZIC3, DNAI1, DNAH5, HYDIN, MMP21), and genes without a hu …
A total of 28 candidate variants (26 rare predicted-damaging variants and 2 hemizygous deletions) were identified, including variants in gen …
Genes and mechanisms of heterotaxy: patients drive the search.
Sempou E, Khokha MK. Sempou E, et al. Curr Opin Genet Dev. 2019 Jun;56:34-40. doi: 10.1016/j.gde.2019.05.003. Epub 2019 Jun 21. Curr Opin Genet Dev. 2019. PMID: 31234044 Review.
Heterotaxy, a disorder in which visceral organs, including the heart, are mispatterned along the left-right body axis, contributes to particularly severe forms of congenital heart disease that are difficult to mitigate even despite surgical advances. ...In this review, we
Heterotaxy, a disorder in which visceral organs, including the heart, are mispatterned along the left-right body axis, contributes to
Cilia, mitochondria, and cardiac development.
Chaudhry B, Henderson DJ. Chaudhry B, et al. J Clin Invest. 2019 Jun 17;129(7):2666-2668. doi: 10.1172/JCI129827. eCollection 2019 Jun 17. J Clin Invest. 2019. PMID: 31205030 Free PMC article.
Both are required to establish left-right identity in the developing embryo and are also implicated in a wide range of human diseases. Abnormalities in cilial function underlie heterotaxy congenital heart disease (CHD) occurring in individuals with laterality disturbance. …
Both are required to establish left-right identity in the developing embryo and are also implicated in a wide range of human diseases. Abnor …
Increased mortality, morbidities, and costs after heart transplantation in heterotaxy syndrome and other complex situs arrangements.
Duong SQ, Godown J, Soslow JH, Thurm C, Hall M, Sainathan S, Morell VO, Dodd DA, Feingold B. Duong SQ, et al. J Thorac Cardiovasc Surg. 2019 Feb;157(2):730-740.e11. doi: 10.1016/j.jtcvs.2018.11.022. Epub 2018 Nov 16. J Thorac Cardiovasc Surg. 2019. PMID: 30669235 Free PMC article.
OBJECTIVES: Identify pediatric heart transplant (HT) recipients with heterotaxy and other complex arrangements of cardiac situs (heterotaxy/situs anomaly) and compare mortality, morbidities, length of stay (LOS), and costs to recipients with congenital …
OBJECTIVES: Identify pediatric heart transplant (HT) recipients with heterotaxy and other complex arrangements of cardiac situs
Surgical Management of Heterotaxy Syndrome: Current Challenges and Opportunities.
Alongi AM, Kirklin JK, Deng L, Padilla L, Pavnica J, Romp RL, Mauchley DC, Cleveland DC, Dabal RJ. Alongi AM, et al. World J Pediatr Congenit Heart Surg. 2020 Mar;11(2):166-176. doi: 10.1177/2150135119893650. World J Pediatr Congenit Heart Surg. 2020. PMID: 32093563
INTRODUCTION: Heterotaxy syndrome presents a unique challenge in surgical management, even in the current era. ...CONCLUSIONS: This analysis of over 100 patients with heterotaxy identified TAPVC requiring initial repair as the major risk factor for early death and i …
INTRODUCTION: Heterotaxy syndrome presents a unique challenge in surgical management, even in the current era. ...CONCLUSIONS: This a …
Changes in Prognosis of Heterotaxy Syndrome Over Time.
Banka P, Adar A, Schaetzle B, Sleeper LA, Emani S, Geva T. Banka P, et al. Pediatrics. 2020 Aug;146(2):e20193345. doi: 10.1542/peds.2019-3345. Epub 2020 Jul 9. Pediatrics. 2020. PMID: 32647064
BACKGROUND: Long-term outcomes in heterotaxy syndrome (HS) are poorly described. Some reports suggest improved survival in the recent era, whereas others do not. ...
BACKGROUND: Long-term outcomes in heterotaxy syndrome (HS) are poorly described. Some reports suggest improved survival in the recent …
Imbalanced mitochondrial function provokes heterotaxy via aberrant ciliogenesis.
Burkhalter MD, Sridhar A, Sampaio P, Jacinto R, Burczyk MS, Donow C, Angenendt M; Competence Network for Congenital Heart Defects Investigators, Hempel M, Walther P, Pennekamp P, Omran H, Lopes SS, Ware SM, Philipp M. Burkhalter MD, et al. J Clin Invest. 2019 May 16;129(7):2841-2855. doi: 10.1172/JCI98890. J Clin Invest. 2019. PMID: 31094706 Free PMC article.
Faulty cilia also prevent the development of proper left-right asymmetry and cause heterotaxy, the incorrect placement of visceral organs. Intriguingly, signaling cascades such as mTor that influence mitochondrial biogenesis also affect ciliogenesis, and can cause heter
Faulty cilia also prevent the development of proper left-right asymmetry and cause heterotaxy, the incorrect placement of visceral or …
Polysplenia Syndrome as a Risk Factor for Early Progression of Pulmonary Hypertension.
Shibata A, Mori H, Kodo K, Nakanishi T, Yamagishi H. Shibata A, et al. Circ J. 2019 Mar 25;83(4):831-836. doi: 10.1253/circj.CJ-18-0933. Epub 2019 Mar 5. Circ J. 2019. PMID: 30842375 Free article.
BACKGROUND: Recent progress in surgical and intensive care has improved the prognosis of congenital heart disease (CHD) associated with heterotaxy syndrome. Less is known, however, about pulmonary vascular complications in these patients. ...
BACKGROUND: Recent progress in surgical and intensive care has improved the prognosis of congenital heart disease (CHD) associated with h
Thoraco-Abdominal Abnormalities in Bardet-Biedl Syndrome: Situs Inversus and Heterotaxy.
Olson AJ, Krentz AD, Finta KM, Okorie UC, Haws RM. Olson AJ, et al. J Pediatr. 2019 Jan;204:31-37. doi: 10.1016/j.jpeds.2018.08.068. Epub 2018 Oct 4. J Pediatr. 2019. PMID: 30293640
Diverse laterality defects were observed suggesting that the underlying ciliopathy randomly alters embryonic left-right axis orientation. Congenital heart disease, common in heterotaxy, was present in 2 subjects. Additional defects, uncommonly reported in BBS, were observe …
Diverse laterality defects were observed suggesting that the underlying ciliopathy randomly alters embryonic left-right axis orientation. Co …
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