Results 61 to 70 of about 537,790 (185)

Case Report: Characterization of a Novel NONO Intronic Mutation in a Fetus With X-Linked Syndromic Mental Retardation-34

Frontiers in Genetics, 2020
BackgroundThe NONO gene is located on chromosome Xq13.1 and encodes a nuclear protein involved in RNA synthesis, transcriptional regulation, and DNA repair.
Hairui Sun, Hairui Sun, Hairui Sun, Lu Han, Lu Han, Xiaoshan Zhang, Xiaoyan Hao, Xiaoyan Hao, Xiaoxue Zhou, Xiaoxue Zhou, Ruiqing Pan, Hongjia Zhang, Hongjia Zhang, Yihua He, Yihua He, Yihua He   +15 more
doaj   +1 more source

Variant Intronic Enhancer Controls SCN10A-Short Expression and Heart Conduction

, 2021
BACKGROUND: Genetic variants in SCN10A, encoding the neuronal voltage-gated sodium channel Na V1.8, are strongly associated with atrial fibrillation, Brugada syndrome, cardiac conduction velocities, and heart rate.
Verkerk, Arie O, Bosada, Fernanda M, Offerhaus, Joost A, Boukens, Bastiaan J, Scholman, Koen T, van Duijvenboden, Karel, Man, Joyce C K, Walsh, Roddy, van Eif, Vincent W W, Bezzina, Connie R, Barnett, Phil, Christoffels, Vincent M   +11 more
core   +1 more source

Intronic Deletion in Hypertrophic Cardiomyopathy [PDF]

, 2020
Background: The common intronic deletion, MYBPC3Δ25, detected in 4% to 8% of South Asian populations, is reported to be associated with cardiomyopathy, with ≈7-fold increased risk of disease in variant carriers.
Peter Swoboda, Pierre-Mongeon, F., Anderson, L., Michaels, M., Michelle Michaels, Helen Sage, Sergeant, K., Carolyn Campbell, Elizabeth Ormondroyd, Edward Blair, Goel, A., Ornella Rimoldi, Woodley, J., Lisa Anderson, Albert van Rossum, Abraham, T., Matthias Friedrich, Michael Bowman, Bradlow, W., Lubna Choudhury, Kim, H., McCann, G., Dana Dawson, Eleanor Elstein, Carolyn Ho, Bethany Currie, Swoboda, P., Anuj Goel, F. Pierre-Mongeon, Kramer, C.M., Hugh Watkins, Camillo Autore, Campbell, C., Elstein, E., Martin Farrall, Nagueh, S., Theodore Abraham, Adam Helms, Prasad, S., Saidi Mohiddin, Gerry McCann, Eric Williamson, Choudhury, L., Ormondroyd, E., Ho, C., Michael Salerno, Jessica Woodley, Bette Kim, Mahrholdt, H., David Newby, Helms, A., Jesse B.G. Hayesmoore, Kim, B., Stefan Neubauer, Williamson, E., Watkins, H., Eric Larose, Karen McGuire, Hayesmoore, J.B.G., Sage, H., Rimoldi, O., Amedeo Chiribiri, Stephen Heitner, Anjali Owens, Masliza Mahmod, Salatino, S., Bowman, M., Currie, B., Olivotto, I., Kate L. Thomson, Waring, A., Evan Appelbaum, Newby, D., Andrew Flett, Dawson, D., Mohiddin, S., Elena Biagini, Jonathan Weinsaft, Heiko Mahrholdt, Kate Sergeant, van Rossum, A., Jeanette Schulz-Menger, Martin Maron, Bucciarelli-Ducci, C., Heitner, S., Mahmod, M., Andrew R. Harper, Crean, A., Jacoby, D.L., Milind Y. Desai, Friedrich, M., Weinsaft, J., Mark Sherrid, Larose, E., Iacopo Olivotto, Thomson, K.L., Chiara Bucciarelli-Ducci, Colin Berry, Owens, A., Han Kim, McGuire, K., Sanjay Prasad, James White, White, J., Sherif Nagueh, Silvia Salatino, Biagini, E., Maron, M., Neubauer, S., Sherrid, M., William Bradlow, Daniel L. Jacoby, Farrall, M., Adam Waring, Appelbaum, E., Berry, C., Flett, A., Autore, C., Chiribiri, A., Schulz-Menger, J., Andrew Crean, Harper, A.R., Desai, M.Y., Blair, E., Salerno, M., Christopher M. Kramer   +125 more
core   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1 , with only four patients reported to date.
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
openaire   +3 more sources

A disease-causing variant of COL4A5 in a Chinese family with Alport syndrome: a case series

BMC Nephrology, 2021
Background Alport syndrome (AS), which is a rare hereditary disease caused by mutations of genes including COL4A3, COL4A4 and COL4A5, has a wide spectrum of phenotypes.
Jing Wu, Jun Zhang, Li Liu, Bo Zhang, Tomohiko Yamamura, Kandai Nozu, Masafumi Matsuo, Jinghong Zhao   +7 more
doaj   +1 more source

An Intronic MBTPS2 Variant Results in a Splicing Defect in Horses with Brindle Coat Texture. [PDF]

, 2016
peer reviewedWe investigated a family of horses exhibiting irregular vertical stripes in their hair coat texture along the neck, back, hindquarters, and upper legs. This phenotype is termed "brindle" by horse breeders. We propose the term "brindle 1 (BR1)
Vidhya Jagannathan, Penedo, M Cecilia, Galichet, Arnaud, Waluk, Dominik Pawel, Welle, Monika M., Eliane J. Müller, Druet, Tom, Murgiano, Leonardo, Welle, Monika Maria, Tom Druet, Michaela Drögemüller, Roosje, Petra, Dietrich, Sara Joëlle, Muller, Eliane J., Pierre Balmer, Tosso Leeb, Dominik P. Waluk, Dietrich, Joelle, Rachel Towers, Wiedemar, Natalie, Müller, Eliane Jasmine, Joëlle Dietrich, Arnaud Galichet, Balmer, Pierre, Jagannathan, Vidhya, Leeb, Tosso, Petra Roosje, Penedo, M. Cecilia, Waluk, Dominik P., Monika M. Welle, Towers, Rachel, Drogemuller, Michaela, Leonardo Murgiano, Natalie Wiedemar, M. Cecilia Penedo   +34 more
core   +2 more sources

OCA2 common variant NM_000275.3:c.574-19A>G affects splicing and is pathogenic.

Molecular Genetics and Metabolism Reports
Albinism is characterized by generalized hypopigmentation and ocular features resulting from impaired melanin biosynthesis. Most known pathogenic variants are rare (MAF  G;p.(Tyr342Cys) and a more common intronic variant, NM_000275.3:c.574-19 A > G (MAF ...
Modibo Diallo, Alicia Defay-Stinat, Claudio Plaisant, Sabine Derrien, Elina Mercier, Sophie Javerzat, Shahram Mesdaghi, Daniel J. Rigden, Eulalie Lasseaux, Vincent Michaud, Benoit Arveiler   +10 more
doaj   +1 more source

Identification of a novel intronic mutation of MAGED2 gene in a Chinese family with antenatal Bartter syndrome

BMC Medical Genomics
Background Antenatal Bartter syndrome is a life-threatening disease caused by a mutation in the MAGED2 gene located on chromosome Xp11. It is characterized by severe polyhydramnios and extreme prematurity. While most reported mutations are located in the
Xu Yan, Yueyue Hu, Xin Zhang, Xia Gao, Yang Zhao, Haiying Peng, Liu Ouyang, Changjun Zhang   +7 more
doaj   +1 more source

Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant

, 2015
Item does not contain fulltextVariants in ABCA4 are responsible for autosomal-recessive Stargardt disease and cone-rod dystrophy. Sequence analysis of ABCA4 exons previously revealed one causative variant in each of 45 probands. To identify the "missing"
Thiadens, A.A.H.J., Phan, M, Stone, EM, Zonneveld-Vrieling, MN, Cremers, F.P.M., Mutlu, M., Mutlu, M, Braun, T.A., Hoyng, C.B., Hoefsloot, LH, Klevering, BJ, Born, L.I. van den, Westeneng-van Haaften, S.C., Westeneng-van Haaften, C, Bax, N.M., de Wijs, I, Roosing, S, Klaver, C.C., Braun, TA, Klaver, Caroline, Klevering, B.J., Hoefsloot, L.H., Hoyng, C, Sangermano, R., Sangermano, R, Thiadens, Alberta, Cremers, FPM, Stone, E.M., Wijs, I. de, Hollander, AI, Phan, M., Zonneveld-Vrieling, M.N., Bax, NM, Hollander, A.I. den, van den Born, LI, Roosing, S.   +35 more
core   +1 more source

A genetic variant in telomerase reverse transcriptase (TERT) modifies cancer risk in Lynch syndrome patients harbouring pathogenic MSH2 variants

Scientific Reports, 2021
Individuals with Lynch syndrome (LS), have an increased risk of developing cancer. Common genetic variants of telomerase reverse transcriptase (TERT) have been associated with a wide range of cancers, including colorectal cancer (CRC) in LS.
Mariann Unhjem Wiik, Tiffany-Jane Evans, Sami Belhadj, Katherine A. Bolton, Dagmara Dymerska, Shantie Jagmohan-Changur, Gabriel Capellá, Grzegorz Kurzawski, Juul T. Wijnen, Laura Valle, Hans F. A. Vasen, Jan Lubinski, Rodney J. Scott, Bente A. Talseth-Palmer   +13 more
doaj   +1 more source