Results 51 to 60 of about 667,667 (355)

Kit receptor tyrosine kinase dysregulations in feline splenic mast cell tumours [PDF]

, 2017
This study investigated Ki t receptor dysregulations (cytoplasmic immunohistochemical expression and/or c-KIT mutations) in cats a\ufb00ected with splenic mast cell tumours. Twenty-two cats were included.
Amagai, Arock, Carpenter, Columbo, Dank, Frost, Garner, Giantin, Hadzijusufovic, Hahn, Henry, Isotani, Isotani, Lanternier, Letard, Liska, Litster, London, London, Mallett, Marconato, Meininger, Rodriguez-Cariño, Sabattini, Sabattini, Sabattini, Spangler, Takanosu, Takeuchi, Webster, Webster, Webster, Zemke   +32 more
core   +1 more source

Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report [PDF]

, 2018
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in any organ systems. Mutations in the TSC1 or TSC2 gene lead to the dysfunction of hamartin or tuberin proteins, which cause tuberous sclerosis ...
Bottillo, I, Han, Y, Lang, Y, Liu, X, Shao, L., Wang, J, Wang, Q, Zhang, R   +7 more
core   +2 more sources

Expression of the plasma prekallikrein gene: utilization of multiple transcription start sites and alternative promoter regions [PDF]

, 2005
The plasma prekallikrein gene is expressed in many different human tissues at distinctly different levels and therefore tissue-specific control of the gene transcription is likely.
Akita, Bhoola, Colman, Davie, DiScipio, Hauert, Ichinose, Motta, Motta, Neth, Schapira, Smale, Suzuki   +12 more
core   +1 more source

Exon skipping for DMD [PDF]

Orphanet Journal of Rare Diseases, 2012
Duchenne muscular dystrophy (DMD) is a severe, progressive muscle-wasting disorder, while Becker muscular dystrophy (BMD) is milder muscle disease [1]. Both are caused by mutations in dystrophin, a protein, which stabilizes muscle fibers during contraction by linking muscle actin to the extracellular matrix.
Annemieke Aartsma-Rus, Judith C.T. van Deutekom, Jan J.G.M. Verschuuren, G. Campion, Gert-Jan B. van Ommen   +4 more
openaire   +2 more sources

Correction to the pathogenic alternative splicing, caused by the common GNB3 c.825C>T allele, using a novel, antisense morpholino [PDF]

, 2016
The very common GNB3 c.825C>T polymorphism (rs5443), is present in approximately half of all human chromosomes. Significantly the presence of the GNB3 825T allele has been strongly associated, with predisposition to essential hypertension ...
Lester, Douglas H., McGlinchey, Jonathan C. P., Tummala, Hemanth   +2 more
core   +3 more sources

A working model for cytoplasmic assembly of H/ACA snoRNPs

FEBS Letters, EarlyView.
Dyskerin is the component of nuclear H/ACA ribonucleoproteins (RNPs) endowed with pseudouridine synthase catalytic activity. Two isoforms of human dyskerin have been characterized: the abundant Iso1, mainly nuclear, and the shorter Iso3, mainly cytoplasmic but occasionally imported into nuclei.
Alberto Angrisani, Maria Furia
wiley   +1 more source

Targeting SR proteins improves SMN expression in spinal muscular atrophy cells. [PDF]

PLoS ONE, 2014
Spinal muscular atrophy (SMA) is one of the most common inherited causes of pediatric mortality. SMA is caused by deletions or mutations in the survival of motor neuron 1 (SMN1) gene, which results in SMN protein deficiency.
Claribel D Wee, Mallory A Havens, Francine M Jodelka, Michelle L Hastings   +3 more
doaj   +1 more source

Characterization of two new alleles at the goat CSN1S2 locus. [PDF]

, 2001
Two novel alleles at the goat CSN1S2 locus have been identified: CSN1S2(F) and CSN1S2(D). Sequence analyses revealed that the CSN1S2(F) allele is characterized by a G --> A transition at the 13th nucleotide in exon 3 changing the seventh amino acid of ...
COSENZA, GIANFRANCO, DI GREGORIO P, GALLO, DANIELA, LONGOBARDI E, PAPPALARDO, MARGHERITA, PASTORE N, RAMUNNO, LUIGI, RANDO A.   +7 more
core   +1 more source

Functional Analysis Of The Mutations Of E Cadherin Exon 4-5, Exon 7, Exon 8, Exon 9 And Exon 16 In Sporadic Infiltrating Ductal Carcinoma Of The Breast [PDF]

IOSR Journal of Dental and Medical Sciences, 2014
E-cadherin mutations are a major step in the metastatic progression. Mutated cadherins contributes to different aspects of cancer progression like drug resistance, angiogenesis, cancer cell invasion and metastasis. Thus cadherins can be regarded as a valuable diagnostic and prognostic indicators as well as potential therapeutic targets of cancer ...
Revathi Kasthuri, Malathi Veeramani
openaire   +1 more source

Multidimensional OMICs reveal ARID1A orchestrated control of DNA damage, splicing, and cell cycle in normal‐like and malignant urothelial cells

Molecular Oncology, EarlyView.
Loss of the frequently mutated chromatin remodeler ARID1A, a subunit of the SWI/SNF cBAF complex, results in less open chromatin, alternative splicing, and the failure to stop cells from progressing through the cell cycle after DNA damage in bladder (cancer) cells. Created in BioRender. Epigenetic regulators, such as the SWI/SNF complex, with important
Rebecca M. Schlösser, Florian Krumbach, Eyleen Corrales, Geoffroy Andrieux, Christian Preisinger, Franziska Liss, Alexandra Golzmann, Melanie Boerries, Kerstin Becker, Ruth Knüchel, Stefan Garczyk, Bernhard Lüscher   +11 more
wiley   +1 more source