Results 81 to 90 of about 2,885,338 (147)

Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency [PDF]

, 2017
We report the clinical, biochemical, and molecular findings in two brothers with encephalopathy and multi-systemic disease. Abnormal transferrin glycoforms were suggestive of a type I congenital disorder of glycosylation (CDG). While exome sequencing was
Bobby G. Ng, Hudson H. Freeze, Raymond Y. Wang, Kircher, Martin, Genomics, University of Washington Center for Mendelian, Shendure, Jay, Friederich, Marisa W, Jose E. Abdenur, Johan L.K. Van Hove, Chang, Richard, Nickerson, Deborah A, Richard Chang, Martin Kircher, Wang, Raymond Y, Ng, Bobby G, Abdenur, Jose E, Mariella T. Simon, Boyer, Monica, Simon, Mariella T, Jay Shendure, Deborah A. Nickerson, Kati J. Buckingham, Buckingham, Kati J, Bamshad, Michael J, Monica Boyer, Marisa W. Friederich, Van Hove, Johan LK, Renata Collard, Freeze, Hudson H, Michael J. Bamshad, Collard, Renata   +30 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

AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation

Molecular Therapy: Nucleic Acids, 2012
Leber congenital amaurosis (LCA) is a severe hereditary retinal dystrophy responsible for congenital or early-onset blindness. The most common disease-causing mutation (>10%) is located deep in intron 26 of the CEP290 gene (c.2991+1655A>G).
Xavier Gerard, Isabelle Perrault, Sylvain Hanein, Eduardo Silva, Karine Bigot, Sabine Defoort-Delhemmes, Marlèene Rio, Arnold Munnich, Daniel Scherman, Josseline Kaplan, Antoine Kichler, Jean-Michel Rozet   +11 more
doaj   +1 more source

A trio of unique alternative splicing patterns : the splicing of tandem NAGNAG acceptors, transcription-start-site-dependent and mutually dependent cassette exons [PDF]

, 2008
With the rapid increase in the volume of genomic and transcript data in mouse and human, a diverse set of alternative splicing patterns can be discovered.
Chern, Tzu-Ming
core   +1 more source

Utilization of a cryptic noncanonical donor splice site in the KRT14 gene causes a mild form of epidermolysis bullosa simplex

, 2006
Epidermolysis bullosa simplex (EBS) is a rare skin disease characterized by the sub-nuclear rupture of epidermal basal cells; Weber–Cockayne is the most common variant (EBS-WC; OMIM 131800).
Han, Song, Cooper, David Neil, Bowden, Paul Edward   +2 more
core   +1 more source

Splicing analysis in CA8-204 reveals cryptic splice sites in rs6471859 created with “G” allele.

, 2019
Results of splicing analyses from HSF3.1 (http://www.umd.be/HSF3/HSF.shtml) for the CA8-204 sequence (NCBI accession: NM_001321837.1, NG_023193.2, refSNP or clinical variation: rs6471859) with the “G” allele at 1,416 bp (SNP location within CA8-204 ...
Eden R. Martin (178237), Udita Upadhyay (593561), Roy C. Levitt (697397), Luda Diatchenko (113829), William Maixner (113833), Marc Parisien (181037), Yuan Kang (36994), Gerald Z. Zhuang (697385), Konstantinos D. Sarantopoulos (697393), Shad B. Smith (697396)   +9 more
core   +1 more source

A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report

BMC Medical Genetics, 2019
Background CHARGE syndrome (MIM# 214800)—which is characterised by a number of congenital anomalies including coloboma, ear anomalies, deafness, facial anomalies, heart defects, atresia choanae, genital hypoplasia, growth retardation, and developmental ...
Evelina Siavrienė, Gunda Petraitytė, Violeta Mikštienė, Tautvydas Rančelis, Živilė Maldžienė, Aušra Morkūnienė, Jekaterina Byčkova, Algirdas Utkus, Vaidutis Kučinskas, Eglė Preikšaitienė   +9 more
doaj   +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

Parent child contact problems—Re‐connecting the dots through a somatic lens

Family Court Review, EarlyView.
Abstract Parent child contact problems (PCCP) and parental alienation (PA) occupy much time for family law professionals especially as parents might use the term PA loosely, for the parent allegedly doing PA and the parent experiencing PA. Negotiating safety, connection and distance are fundamental to PCCP.
Maureen Mueller
wiley   +1 more source

Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5 ' splice-site disruption

, 2007
We describe 94 pathogenic NF1 gene alterations in a cohort of 97 Austrian neurofibromatosis type I patients meeting the NIH criteria. All mutations were fully characterized at the genomic and mRNA levels. Over half of the patients carried novel mutations,
Etzler, J., Rao, A. R., Wimmer, K., Callens, T., Messiaen, L., Beiglbock, H., Krainer, A. R., Roca, X., Fonatsch, C.   +8 more
core   +1 more source