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Page 1
Characterizing the morbid genome of ciliopathies.
Shaheen R, Szymanska K, Basu B, Patel N, Ewida N, Faqeih E, Al Hashem A, Derar N, Alsharif H, Aldahmesh MA, Alazami AM, Hashem M, Ibrahim N, Abdulwahab FM, Sonbul R, Alkuraya H, Alnemer M, Al Tala S, Al-Husain M, Morsy H, Seidahmed MZ, Meriki N, Al-Owain M, AlShahwan S, Tabarki B, Salih MA; Ciliopathy WorkingGroup; Faquih T, El-Kalioby M, Ueffing M, Boldt K, Logan CV, Parry DA, Al Tassan N, Monies D, Megarbane A, Abouelhoda M, Halees A, Johnson CA, Alkuraya FS. Shaheen R, et al. Genome Biol. 2016 Nov 28;17(1):242. doi: 10.1186/s13059-016-1099-5. Genome Biol. 2016. PMID: 27894351 Free PMC article.
Genomic analysis of our cohort further identified mutations in a novel morbid gene TXNDC15, encoding a thiol isomerase, based on independent loss of function mutations in individuals with a consistent ciliopathy phenotype (Meckel-Gruber syndrome) and a functional effect of …
Genomic analysis of our cohort further identified mutations in a novel morbid gene TXNDC15, encoding a thiol isomerase, based on inde …
Conventional and genetic associations of adiposity with 1463 proteins in relatively lean Chinese adults.
Yao P, Iona A, Kartsonaki C, Said S, Wright N, Lin K, Pozarickij A, Millwood I, Fry H, Mazidi M, Chen Y, Du H, Bennett D, Avery D, Schmidt D, Pei P, Lv J, Yu C, Hill M, Chen J, Peto R, Walters R, Collins R, Li L, Clarke R, Chen Z; China Kadoorie Biobank Collaborative Group. Yao P, et al. Eur J Epidemiol. 2023 Oct;38(10):1089-1103. doi: 10.1007/s10654-023-01038-9. Epub 2023 Sep 7. Eur J Epidemiol. 2023. PMID: 37676424 Free PMC article.
Two-sample bi-directional MR analyses using cis-pQTLs identified in CKB GWAS found eight proteins (ITIH3, LRP11, SCAMP3, NUDT5, OGN, EFEMP1, TXNDC15, PRDX6) significantly affect levels of BMI, with NUDT5 also showing bi-directional association. ...
Two-sample bi-directional MR analyses using cis-pQTLs identified in CKB GWAS found eight proteins (ITIH3, LRP11, SCAMP3, NUDT5, OGN, EFEMP1, …
Novel homozygous mutations in TXNDC15 causing Meckel syndrome.
Deng T, Xie Y. Deng T, et al. Mol Genet Genomic Med. 2024 Mar;12(3):e2343. doi: 10.1002/mgg3.2343. Epub 2023 Dec 29. Mol Genet Genomic Med. 2024. PMID: 38156946 Free PMC article.
BACKGROUND: Meckel syndrome (MKS) is the most severe form of an autosomal recessive ciliopathy and is clinically characterized by occipital encephalocele, severely polycystic kidneys, and postaxial polydactyly (toes). The association of TXNDC15-related MKS has been reporte …
BACKGROUND: Meckel syndrome (MKS) is the most severe form of an autosomal recessive ciliopathy and is clinically characterized by occipital …
A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene.
Ridnõi K, Šois M, Vaidla E, Pajusalu S, Kelder L, Reimand T, Õunap K. Ridnõi K, et al. Mol Genet Genomic Med. 2019 May;7(5):e614. doi: 10.1002/mgg3.614. Epub 2019 Mar 9. Mol Genet Genomic Med. 2019. PMID: 30851085 Free PMC article.
The characteristic findings in fetuses affected by MKS are encephalocele (usually occipital), postaxial polydactyly, and polycystic dysplastic kidneys. However, the association of the TXNDC15 gene with MKS has been reported only once before in three consanguineous families …
The characteristic findings in fetuses affected by MKS are encephalocele (usually occipital), postaxial polydactyly, and polycystic dysplast …
Meckel syndrome: Clinical and mutation profile in six fetuses.
Radhakrishnan P, Nayak SS, Shukla A, Lindstrand A, Girisha KM. Radhakrishnan P, et al. Clin Genet. 2019 Dec;96(6):560-565. doi: 10.1111/cge.13623. Epub 2019 Aug 21. Clin Genet. 2019. PMID: 31411728
We describe the second family with MKS due to a homozygous variant in B9D2 and fifth family with bi-allelic variant in TXNDC15. Our data validates the causation of MKS by pathogenic variation in B9D2 and TXNDC15 and also adds novel variants in CC2D2A, CEP290 and TME …
We describe the second family with MKS due to a homozygous variant in B9D2 and fifth family with bi-allelic variant in TXNDC15. Our d …
First preimplantation genetic testing case of Meckel syndrome with a novel homozygous TXNDC15 variant in a non-consanguineous Chinese family.
Xu H, Pu J, Yang N, Wu Z, Han C, Yao J, Li X. Xu H, et al. Mol Genet Genomic Med. 2024 Jan;12(1):e2340. doi: 10.1002/mgg3.2340. Epub 2023 Dec 11. Mol Genet Genomic Med. 2024. PMID: 38073519 Free PMC article.
CONCLUSION: This is the first report of a TXNDC15 variant in the Chinese population and the first PGT case of TXNDC15-related MKS worldwide. The successful application of PGT-M in this family provides a potential approach for other monogenic diseases. Our case expan …
CONCLUSION: This is the first report of a TXNDC15 variant in the Chinese population and the first PGT case of TXNDC15-related …
Survey of disorders of sex development in a large cohort of patients with diverse Mendelian phenotypes.
Abualsaud D, Hashem M, AlHashem A, Alkuraya FS. Abualsaud D, et al. Am J Med Genet A. 2021 Sep;185(9):2789-2800. doi: 10.1002/ajmg.a.61876. Epub 2020 Sep 19. Am J Med Genet A. 2021. PMID: 32949114
Six genes have no associated phenotype in OMIM (PIANP, CELSR2, USP2, FAM179B, TXNDC15, and CCDC96). Thirteen genes have non-DSD OMIM phenotypes, thus we are expanding their phenotype to include DSD. ...
Six genes have no associated phenotype in OMIM (PIANP, CELSR2, USP2, FAM179B, TXNDC15, and CCDC96). Thirteen genes have non-DSD OMIM …