Tricuspid atresia causes: Difference between revisions
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* A [[missense mutation]] in RASA1 that is responsible for the regulation of Ras/ERK cascade. | * A [[missense mutation]] in RASA1 that is responsible for the regulation of Ras/ERK cascade. | ||
* A missense mutation in NFATC1 which downregulates the Ras/ERK pathway.<ref name="pmid30507091">{{cite journal |vauthors=Nozari A, Aghaei-Moghadam E, Zeinaloo A, Alavi A, Ghasemi Firouzabdi S, Minaee S, Eskandari Hesari M, Behjati F |title=A Pathogenic Homozygous Mutation in The Pleckstrin Homology Domain of RASA1 Is Responsible for Familial Tricuspid Atresia in An Iranian Consanguineous Family |journal=Cell J |volume=21 |issue=1 |pages=70–77 |date=April 2019 |pmid=30507091 |pmc=6275424 |doi=10.22074/cellj.2019.5734 |url=}}</ref> | * A missense mutation in NFATC1 which downregulates the Ras/ERK pathway.<ref name="pmid30507091">{{cite journal |vauthors=Nozari A, Aghaei-Moghadam E, Zeinaloo A, Alavi A, Ghasemi Firouzabdi S, Minaee S, Eskandari Hesari M, Behjati F |title=A Pathogenic Homozygous Mutation in The Pleckstrin Homology Domain of RASA1 Is Responsible for Familial Tricuspid Atresia in An Iranian Consanguineous Family |journal=Cell J |volume=21 |issue=1 |pages=70–77 |date=April 2019 |pmid=30507091 |pmc=6275424 |doi=10.22074/cellj.2019.5734 |url=}}</ref> | ||
* Familial recurrence of tricuspid atresia is rare. | * Familial recurrence of tricuspid atresia is rare.<ref name="pmid23226213">{{cite journal |vauthors=Abdul-Sater Z, Yehya A, Beresian J, Salem E, Kamar A, Baydoun S, Shibbani K, Soubra A, Bitar F, Nemer G |title=Two heterozygous mutations in NFATC1 in a patient with Tricuspid Atresia |journal=PLoS ONE |volume=7 |issue=11 |pages=e49532 |date=2012 |pmid=23226213 |pmc=3511479 |doi=10.1371/journal.pone.0049532 |url=}}</ref> | ||
* Few cases of an autosomal recessive pattern of inheritance are reported. | * Few cases of an autosomal recessive pattern of inheritance are reported. | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor-In-Chief:;Sara Zand, M.D.[2] Keri Shafer, M.D. [3] Priyamvada Singh, MBBS [4]; Assistant Editor-In-Chief: Kristin Feeney, B.S. [5]
Overview
- Disruption tricuspid valvogenesis due to mutation in some genes include:
- A missense mutation in RASA1 that is responsible for the regulation of Ras/ERK cascade.
- A missense mutation in NFATC1 which downregulates the Ras/ERK pathway.[1]
- Familial recurrence of tricuspid atresia is rare.[2]
- Few cases of an autosomal recessive pattern of inheritance are reported.
References
- ↑ Nozari A, Aghaei-Moghadam E, Zeinaloo A, Alavi A, Ghasemi Firouzabdi S, Minaee S, Eskandari Hesari M, Behjati F (April 2019). "A Pathogenic Homozygous Mutation in The Pleckstrin Homology Domain of RASA1 Is Responsible for Familial Tricuspid Atresia in An Iranian Consanguineous Family". Cell J. 21 (1): 70–77. doi:10.22074/cellj.2019.5734. PMC 6275424. PMID 30507091.
- ↑ Abdul-Sater Z, Yehya A, Beresian J, Salem E, Kamar A, Baydoun S, Shibbani K, Soubra A, Bitar F, Nemer G (2012). "Two heterozygous mutations in NFATC1 in a patient with Tricuspid Atresia". PLoS ONE. 7 (11): e49532. doi:10.1371/journal.pone.0049532. PMC 3511479. PMID 23226213.