Zobrazeno 1 - 10
of 183
pro vyhledávání: '"Synonymous variant"'
Publikováno v:
Медицинская иммунология, Vol 26, Iss 1, Pp 203-210 (2024)
The main cause of edema in hereditary angioedema (HAE) is due to elevated bradykinin levels, caused either by C1-INH deficiency/change in functional activity and caused by mutations in the SERPING1 gene or by mutations in the F12, PLG, ANGPT1, KNG1,
Externí odkaz:
https://doaj.org/article/144bc2614ce5426faf54790c0e0504a4
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101043- (2024)
Background: Maturity-onset diabetes of the young, type 13 (MODY13) is a specific subclass of monogenic diabetes mellitus that does not exhibit the typical clinical manifestations of diabetes, necessitating the use of genetic testing for accurate diag
Externí odkaz:
https://doaj.org/article/c9e65043e21f46fa9f9e93c69c63eb39
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2023)
BackgroundA novel autosomal recessive skeletal dysplasia resulting from pathogenic variants in membrane-bound transcription factor peptidase, site 1 (MBTPS1) has been recently delineated. To date, only three patients have been reported.MethodsIn this
Externí odkaz:
https://doaj.org/article/fbe3b7fb2f9b4322a9c148c0d237ec6f
Autor:
Weifeng Zhang, Zhiyong Liu, Yiming Lin, Ruiquan Wang, Jinglin Xu, Ying He, Fengfeng Zhang, Lianqiang Wu, Dongmei Chen
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-8 (2021)
Abstract Background Lethal respiratory failure is primarily caused by a deficiency of pulmonary surfactant, and is the main cause of neonatal death among preterm infants. Pulmonary surfactant metabolism dysfunction caused by variants in the ABCA3 gen
Externí odkaz:
https://doaj.org/article/eda467cc50d148e2abbae6b164ce2475
Autor:
Meizhen Shi, Yuying Liang, Bobo Xie, Xianda Wei, Haiyang Zheng, Chunrong Gui, Rong Huang, Xin Fan, Chuan Li, Xiaojiao Wei, Yunting Ma, Shaoke Chen, Yujun Chen, Baoheng Gui
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Cornelia de Lange syndrome (CdLS) is an autosomal dominant or X-linked genetic disease with significant genetic heterogeneity. Variants of the NIPBL gene are responsible for CdLS in 60% of patients. Herein, we report the case of a patient with CdLS s
Externí odkaz:
https://doaj.org/article/c2ab08a0952c4ec2be91a738b5d223d3
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-9 (2021)
Abstract Background Variants identified through parent–child trio-WES yield up to 28–55% positive diagnostic rate across a variety of Mendelian disorders, there remain numerous patients who do not receive a genetic diagnosis. Studies showed that
Externí odkaz:
https://doaj.org/article/9e4d0d0e9f5a4c6b8bd5f611682928d5
Autor:
Romina Celeste Geysels, Carlos Eduardo Bernal Barquero, Mariano Martín, Victoria Peyret, Martina Nocent, Gabriela Sobrero, Liliana Muñoz, Malvina Signorino, Graciela Testa, Ricardo Belisario Castro, Ana María Masini-Repiso, Mirta Beatriz Miras, Juan Pablo Nicola
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
BackgroundCongenital iodide transport defect (ITD) is an uncommon cause of dyshormonogenic congenital hypothyroidism characterized by the absence of active iodide accumulation in the thyroid gland. ITD is an autosomal recessive disorder caused by los
Externí odkaz:
https://doaj.org/article/48789212a11540bc9e817a0526e34302
Publikováno v:
BMC Nephrology, Vol 21, Iss 1, Pp 1-13 (2020)
Abstract Background PKHD1 is the main genetic cause of autosomal recessive polycystic kidney disease (ARPKD), a hereditary hepato-renal fibrocystic disorder which is the most important cause of end-stage renal disease during early childhood. ARPKD ca
Externí odkaz:
https://doaj.org/article/a74a6375bd64435693d519320c8e611e
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 9 (2022)
BackgroundSudden cardiac death (SCD), based on sudden cardiac ejection cessation, is an unexpected death. Primary cardiomyopathies, including dilated cardiomyopathy (DCM), are one of main causes of SCD. The DCM is characterized by a cardiac dilatatio
Externí odkaz:
https://doaj.org/article/e6a7134ab0e847b4818aac80f0968849
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Recessive mutations in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome (RMFSL), a phenotype characterized by neonatal microcephaly, hypertonia, and refractory epilepsy with premature death. Recently, attenuated disease variants h
Externí odkaz:
https://doaj.org/article/83d7a611bf224e259ef340e81841e32c