Results 271 to 280 of about 411,790 (378)

Alternative splicing in ovarian cancer. [PDF]

Cell Commun Signal
Wei L, Li Y, Chen J, Wang Y, Wu J, Yang H, Zhang Y.   +6 more
europepmc   +1 more source

Alternative mRNA splicing generates tissue-specific isoforms of 116-kDa polypeptide of vacuolar proton pump.

, 1994
Sheng Peng, B. P. Crider, Xiao‐Song Xie, Dennis K. Stone   +3 more
openalex   +1 more source

Multiple Rh messenger RNA isoforms are produced by alternative splicing [PDF]

, 1992
Caroline Le Van Kim, Baya Chérif‐Zahar, V Raynal, Isabelle Mouro-Chanteloup, Marc Lopez, JP Cartron, Yves Colin   +6 more
openalex   +1 more source

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah, Neora Shifrin, Mary Ellen Keogh, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon   +6 more
wiley   +1 more source

A Splice‐Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in GNAS can cause a wide range of diseases including pseudohypoparathyroidism, pseudopseudohypoparathyroidism, McCune‐Albright syndrome, among others. The specific phenotypic features that may be seen are influenced by the variant type and location in the gene, whether it causes loss or gain of function, and whether it is ...
Brandon S. Stone, Swetha Ramadesikan, Regan McGinley, Scott E. Hickey, Leeran B. Dublin‐Ryan, Steven I. Estes, Victoria A. Elliott, Benjamin Karabasz, Jesse M. Hunter, Bimal P. Chaudhari, Richard K. Wilson, Daniel C. Koboldt   +11 more
wiley   +1 more source

Comprehensive mapping of Arabidopsis alternative splicing landscape reveals key insights into plant development and immunity. [PDF]

Plant Genome
Barff T, Sanchez Carrillo IB, Parra Gutiérrez VP, B Plourde M, Joly DL, Germain H.   +5 more
europepmc   +1 more source

Pre-pre-B acute lymphoblastic leukemia: high frequency of alternatively spliced ALL1-AF4 transcripts and absence of minimal residual disease during complete remission [PDF]

, 1994
JW Janssen, WD Ludwig, Arndt Borkhardt, U Spadinger, Harald Rieder, Christa Fonatsch, DK Hossfeld, Jochen Harbott, AS Schulz, Reinald Repp   +9 more
openalex   +1 more source

Resolving the Diagnostic Odyssey in Inherited Retinal Dystrophies Through Long‐Read Genome Sequencing

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Inherited retinal dystrophies (IRDs) inherited are visually disabling monogenic diseases with remarkable genetic and phenotypic heterogeneity. Mutations in more than 300 different genes have been identified as disease‐causing. The genetic diagnosis of IRDs has significantly advanced with the integration of Next Generation Sequencing (NGS ...
Gerardo E. Fabian‐Morales, Vianey Ordoñez‐Labastida, William J. Rowell, Christine Lambert, Cairbre Fanslow, Alexander Robertson, Juan C. Zenteno   +6 more
wiley   +1 more source

Modulation of human saposin B sphingolipid-binding specificity by alternative splicing. A study with saposin B-derived synthetic peptides.

, 1994
Sonia Lamontagne, Marie Potier‐Cartereau   +1 more
openalex   +1 more source

Alternative Splicing of BnABF4L Mediates Response to Abiotic Stresses in Rapeseed (Brassica napus L.). [PDF]

Biotechnol Biofuels Bioprod
Zhu R, Yue C, Wu S, Wu M, Xu Z, Liu X, Wang R, Wang M.   +7 more
europepmc   +1 more source