Results 271 to 280 of about 325,490 (342)

Alternative splicing of alpha A-crystallin RNA. Structural and quantitative analyses of the mRNAs for the alpha A2- and alpha Ains-crystallin polypeptides.

, 1984
Charles R. King, Joram Piatigorsky
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

Alternative splicing fine-tunes prey shift of Coccinellini lady beetles to non-target insect. [PDF]

BMC Genomics
Tang X, Xia X, Liu Y, Hong X, Huang Y, Li G, Liang Y, Wang X, Pang H, Yang Y.   +9 more
europepmc   +1 more source

A novel hybrid alpha-tropomyosin in fibroblasts is produced by alternative splicing of transcripts from the skeletal muscle alpha-tropomyosin gene.

, 1987
Sonia Pearson‐White, Charles P. Emerson   +1 more
openalex   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Blood RNA-seq in rare disease diagnostics: a comparative study of cases with and without candidate variants. [PDF]

J Transl Med
Luo X, Xiao B, Liang L, Zhang K, Xu T, Liu H, Liu Y, Yu Y, Fan Y.   +8 more
europepmc   +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

Identification and functional characteristics of a novel splice site variant in <i>L1CAM</i> caused X-linked hydrocephalus. [PDF]

Front Genet
Zhou S, Zhang H, Li X, Chen Q, Xu Z.
europepmc   +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

The heterozygous mutation <i>COL4A4</i> c.817-1G>A causes Alport syndrome in a Chinese family: a case report. [PDF]

Front Pediatr
Wang D, Li X, Cheng K, Zheng L, Yu P, Lai P.   +5 more
europepmc   +1 more source