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Page 1
Human Genetics of Defects of Situs.
Perrot A, Rickert-Sperling S. Perrot A, et al. Adv Exp Med Biol. 2024;1441:705-717. doi: 10.1007/978-3-031-44087-8_42. Adv Exp Med Biol. 2024. PMID: 38884744 Review.
This has led to the identification of mutations in at least 33 different genes in humans with heterotaxy and situs defects. Those mutations affect a broad range of molecular components, from transcription factors, signaling molecules, and chromatin modifiers to ciliary pro …
This has led to the identification of mutations in at least 33 different genes in humans with heterotaxy and situs defects. Those mut …
Thoracic duct drainage patterns in heterotaxy.
Castellanos DA, Bucholz EM, Bai K, Esch JJ, Hoganson D, Sanders SP, Shaikh R, Ghelani SJ, Schidlow DN. Castellanos DA, et al. J Cardiovasc Magn Reson. 2024 Winter;26(2):101050. doi: 10.1016/j.jocmr.2024.101050. Epub 2024 Jun 21. J Cardiovasc Magn Reson. 2024. PMID: 38909657 Free PMC article.
BACKGROUND: Disordered lymphatic drainage is common in congenital heart diseases (CHD), but thoracic duct (TD) drainage patterns in heterotaxy have not been described in detail. This study sought to describe terminal TD sidedness in heterotaxy and its associations w …
BACKGROUND: Disordered lymphatic drainage is common in congenital heart diseases (CHD), but thoracic duct (TD) drainage patterns in heter …
Expanding MNS1 Heterotaxy Phenotype.
Maraval J, Delahaye-Duriez A, Racine C, Bruel AL, Denommé-Pichon AS, Gaudillat L, Thauvin-Robinet C, Lucain M, Satre V, Coutton C; AURAGEN Consortium; de Sainte Agathe JM, Keren B, Faivre L. Maraval J, et al. Am J Med Genet A. 2025 Jan;197(1):e63862. doi: 10.1002/ajmg.a.63862. Epub 2024 Sep 5. Am J Med Genet A. 2025. PMID: 39233552
To date, two different homozygous MNS1 variants have been associated with autosomal recessive visceral heterotaxy (MIM#618948). A French individual was identified with compound heterozygous variants in the MNS1 gene. ...
To date, two different homozygous MNS1 variants have been associated with autosomal recessive visceral heterotaxy (MIM#618948). A Fre …
Clinical Presentation and Therapy of Anomalies of the Situs.
Haas NA, Driscoll DJ, Rickert-Sperling S. Haas NA, et al. Adv Exp Med Biol. 2024;1441:699-704. doi: 10.1007/978-3-031-44087-8_41. Adv Exp Med Biol. 2024. PMID: 38884743
Situs ambiguus describes an abnormal distribution of major visceral organs within the chest and abdomen. ...Situs is considered solitus if the left atrium, spleen, stomach, and the trilobed lung are on the left side and the liver and bilobed lung are on the right si …
Situs ambiguus describes an abnormal distribution of major visceral organs within the chest and abdomen. ...Situs is considere …
Genetic aspects of congenital heart disease in heterotaxy syndrome.
Ahmad Rafie NN, Yubbu P, Aissvarya S, Pujita R, Musa NH, Mohamed Ibrahim NH, Thilakavathy K. Ahmad Rafie NN, et al. Rev Port Cardiol. 2025 Oct;44(10):633-648. doi: 10.1016/j.repc.2025.05.007. Epub 2025 Aug 9. Rev Port Cardiol. 2025. PMID: 40789547 Free article. Review. English, Portuguese.
Abnormal arrangement of thoracoabdominal organs, situs ambiguous, is also known as heterotaxy syndrome (HTX). It has been frequently linked with congenital heart diseases (CHD), which are commonly reported as atrioventricular septal defects (AVSD), atrial septal defects (A …
Abnormal arrangement of thoracoabdominal organs, situs ambiguous, is also known as heterotaxy syndrome (HTX). It has been frequently …
Unravelling the complexity of heterotaxy syndrome.
Bilamge A, Vallabhaneni P, Didel S, Rajagopal R. Bilamge A, et al. BMJ Case Rep. 2023 Oct 31;16(10):e256198. doi: 10.1136/bcr-2023-256198. BMJ Case Rep. 2023. PMID: 37907318 Free PMC article. No abstract available.
Prenatal Diagnosis of a Heterotaxy Syndrome.
White A, Poorvu T, Estroff J, U Morton S, H Wojcik M. White A, et al. Neoreviews. 2024 Sep 1;25(9):e594-e600. doi: 10.1542/neo.25-9-e594. Neoreviews. 2024. PMID: 39217136 No abstract available.
Functions of cilia in cardiac development and disease.
Shaikh Qureshi WM, Hentges KE. Shaikh Qureshi WM, et al. Ann Hum Genet. 2024 Jan;88(1):4-26. doi: 10.1111/ahg.12534. Epub 2023 Oct 23. Ann Hum Genet. 2024. PMID: 37872827 Free PMC article. Review.
Cilia dysfunction during left-right axis formation contributes to CHD as evidenced by the substantial proportion of heterotaxy patients displaying complex CHD. Cilia-transduced signaling also regulates later events during heart development such as cardiac valve formation, …
Cilia dysfunction during left-right axis formation contributes to CHD as evidenced by the substantial proportion of heterotaxy patien …
70 results