Results 51 to 60 of about 11,911 (175)

Identification of a novel CACNA1F mutation in a Chinese family with CORDX3

Molecular Genetics & Genomic Medicine, 2022
Background X‐linked cone‐rod dystrophy (CORDX) is one form of inherited retinal disorders (IRDs) characterized by progressive dysfunction of photoreceptor. Three types of CORDX were reported and CACNA1F gene defect can cause CORDX3. The aim of this study
Meng Du, Yang Li, Panpan Zheng, Liang Zhong, Weili Zhao, Yuxin Zhang, Haiyan Gu, Xue Li, Zanchao Liu   +8 more
doaj   +1 more source

ASO activity is correlated with repeat number in a minigene system.

, 2014
The GCGR repeat sequence was inserted into the intron of a SOD1 minigene. A) Sequences of two- and four-repeat GCGR inserts with restrictions sites for directional cloning. B) T-REx-293 cells harboring SOD-GCGR minigene constructs containing one, two, or
Susan M. Freier (393136), Huynh-Hoa Bui (19123), Timothy A. Vickers (605766), Stanley T. Crooke (449546), Andrew Watt (644905)   +4 more
core   +1 more source

Genetic Testing Unveils a Novel Thrombospondin‐1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79‐Year‐Old Woman

Clinical Genetics, EarlyView.
A 79‐year‐old woman with lifelong peripheral edema and an affected sister was found to harbor a novel homozygous THSD1 splice‐site variant. Reduced THSD1 expression in dermal endothelial cells supported the possibility that this variant contributes to chronic hereditary edema.
Eiko Amo, Takafumi Toyohara, Naoya Saijo, Satoko Sato, Jun Takayama, Yoshiko Suto, Yuji Noguchi, Sosuke Kinomura, Yusuke Ishizuka, Shun Watanabe, Koichi Kikuchi, Rui Makino, Mai Yoshida, Yuji Oe, Tasuku Nagasawa, Koji Okamoto, Takehiro Suzuki, Mariko Miyazaki, Shinya Kawaguchi, Takashi Suzuki, Takaaki Abe, Shigeo Kure, Atsuo Kikuchi, Tetsuhiro Tanaka   +23 more
wiley   +1 more source

Results of the splicing minigene analyses.

, 2014
RT-PCR analysis of the literature-derived E+1 variations. The splicing affecting sequences are underlined. (A) The test set sequences. cDNA bands originating from BTK exon 10 mutated minigene are numbered as follows: 1) cryptic 3′ss utilization 31 nt ...
Emanuele Buratti (11907), Ladislav Dušek (525705), Lucie Grodecká (525702), Francisco E. Baralle (11908), Pavla Lockerová (525703), Barbora Ravčuková (525704), Tomáš Freiberger (5658001)   +6 more
core   +1 more source

A novel deep intronic EIF2AK3 variant disrupts splicing and causes Wolcott–Rallison syndrome

Diabetic Medicine, EarlyView.
Abstract Aim Deep intronic variants can disrupt splicing and cause monogenic disease but are missed by routine genetic testing. This study assessed the contribution of deep intronic variants to Wolcott–Rallison syndrome (WRS), a recessive disorder characterized by early‐onset diabetes and progressive multisystem disease caused by loss‐of‐function ...
Alaa Al Assi, Georgia Bonfield, James Russ‐Silsby, Suhel Ahmed, Thomas W. Laver, Kadri Karaer, Bayram Özhan, Ayca Altincik, Kashyap A. Patel, Jayne A. L. Houghton, Sarah E. Flanagan, Matthew B. Johnson, Elisa De Franco   +12 more
wiley   +1 more source

Functional analysis of a novel variant in the COL5A1 gene in a Polish patient with the classical type of Ehlers–Danlos syndrome

Frontiers in Genetics
Ehlers–Danlos syndrome (EDS) is a clinically and genetically diverse group of inherited connective tissue disorders. According to the 2017 International Classification, 13 EDS subtypes are associated with pathogenic variants in 19 genes, most of which ...
Anna Junkiert-Czarnecka, Karolina Maciak, Magdalena M. Kacprzak, Agnieszka Łobodzińska, Agnieszka Sobczyńska-Tomaszewska, Aneta Jurkiewicz, Monika Gora, Beata Burzynska, Maria Pilarska-Deltow, Olga Haus   +9 more
doaj   +1 more source

Investigating the molecular basis of the serological Rh D‐negative phenotype in Indonesia: nature, frequency, and impact for diagnostics

Transfusion, EarlyView.
Abstract Background Although widely studied and reported for more than 30 years, the molecular basis of Rh D‐negativity has remained unexplored in several regions of the world, including in Indonesia, Southeast Asia. Study Design and Methods A subset of 436 Indonesian blood donors originally typed D‐negative (D–) by routine serological testing was ...
Tonny Wongso, Teguh Triyono, Caroline Bénech, Gauthier Thomas, Sasi Widuri, Martono Adi Triyogo, Ni Kadek Mulyantari, Misnah Syarifuddin, Halimi Maksum, Winda Astuti Taruno, Hasna Fadlilatul Bidayah, Yann Fichou   +11 more
wiley   +1 more source

Molecular characterization of CD36 deficiency in blood donors of Middle Eastern and African origin reveals transcript‐level defects beyond genomic variants

Transfusion, EarlyView.
Abstract Background The increasing diversity of blood donor populations has created new challenges for transfusion services worldwide. The identification of donors lacking relevant high‐prevalence antigens is becoming increasingly important to ensure compatible blood products for alloimmunized patients and to support the development of rare donor ...
Sarah Petermann, Inga Stellmacher, Brigitte K. Flesch, Tanja Rehling, Irina Häcker, Marc F. Schetelig, Alexander Carbol, Lambros Kordelas   +7 more
wiley   +1 more source

Expression of Vα3.2 and Vα2 in Vα3.2 minigene transgenic mouse lines.

, 2014
Expression of Vα3.2 and Vα2 in Vα3.2 minigene transgenic mouse lines.
Jeanette Ampudia (674082), Karsten Sauer (307174), Vasily Rybakin (311988), Luise Westernberg (674080), Guo Fu (242035), Hee-Ok Kim (674081), Nicholas R. J. Gascoigne (311989)   +6 more
core   +1 more source

Pathogenic evaluation of synonymous COL4A5 variants in X-linked Alport syndrome using a minigene assay [PDF]

, 2020
Background: X-linked Alport syndrome (XLAS) is a progressive, hereditary glomerular nephritis of variable severity caused by pathogenic COL4A5 variants. Currently, genetic testing is widely used for diagnosing XLAS; however, determining the pathogenicity
Ishimori, Shingo, Shogo Minamikawa, Kazumoto Iijima, Yuya Aoto, Hiroaki Nagase, Hiroki Takeda, Takeda, Hiroki, Shingo Ishimori, Matsuo, Masafumi, Tomoko Horinouchi, Shima, Yuko, Nana Sakakibara, Hiroshi Kaito, Sakakibara, Nana, Rini Rossanti, Koichi Nakanishi, Minamikawa, Shogo, China Nagano, Shinya Ishiko, Tomohiko Yamamura, Horinouchi, Tomoko, Kandai Nozu, Naoya Morisada, Morisada, Naoya, Rossanti, Rini, Yamamura, Tomohiko, Aoto, Yuya, Kaito, Hiroshi, Nakanishi, Koichi, Nozu, Kandai, Yuko Shima, Ishiko, Shinya, Masafumi Matsuo, Nagano, China, Nagase, Hiroaki, Iijima, Kazumoto   +35 more
core   +1 more source