Results 161 to 170 of about 64,882 (210)

Novel <i>LYST</i> Variants Lead to Aberrant Splicing in a Patient with Chediak-Higashi Syndrome. [PDF]

Genes (Basel)
Aleksenko M, Vlasova E, Kieva A, Abasov R, Rodina Y, Maschan M, Shcherbina A, Raykina E.   +7 more
europepmc   +1 more source

From Basics to Benchmarks: Evaluating Sample Adequacy, PD‐L1 Expression, and Molecular Profiling in Effusion Samples of Lung Adenocarcinoma

Diagnostic Cytopathology, EarlyView.
ABSTRACT Introduction Lung adenocarcinoma commonly causes malignant pleural effusion (MPE), a condition with poor prognosis and limited treatment options. Pleural effusion specimens offer a minimally invasive source for diagnosis and molecular testing.
Harpreet Virk, Claire Michael, Keri Ann Pfeil, Navid Sadri, Omid Savari, Aparna Harbhajanka   +5 more
wiley   +1 more source

Aberrant splicing in Huntington's disease accompanies disrupted TDP-43 activity and altered m6A RNA modification. [PDF]

Nat Neurosci
Nguyen TB, Miramontes R, Chillon-Marinas C, Maimon R, Vazquez-Sanchez S, Lau AL, McClure NR, Wu Z, Wang KQ, England WE, Singha M, Stocksdale JT, Heath M, Jang KH, Jung S, Ling K, Jafar-Nejad P, McKnight JI, Ho LN, Dalahmah OA, Faull RLM, Steffan JS, Reidling JC, Jang C, Lee G, Cleveland DW, Lagier-Tourenne C, Spitale RC, Thompson LM.   +28 more
europepmc   +1 more source

Numerical investigation on the influence of mesoscopic deformation on contact area and hydraulic aperture to fracture seepage

Deep Underground Science and Engineering, EarlyView.
Fluid flow through a single fracture is commonly described by the cubic law. However, deviations from this model are expected because natural fracture surfaces are rough and in contact with each other in discrete regions. In this study, the interactions between fracture closure, contact area, and hydraulic characterization of mesoscopic‐scale rough ...
Chenghao Han, Yuanlin Bai, Weijie Zhang, Jicheng Zhang, Hongfa Ma, Weiye Li   +5 more
wiley   +1 more source

A Systematic Identification of RNA-Binding Proteins (RBPs) Driving Aberrant Splicing in Cancer. [PDF]

Biomedicines
Lobato-Fernandez C, Gimeno M, San Martín A, Anorbe A, Rubio A, Ferrer-Bonsoms JA.   +5 more
europepmc   +1 more source

Expression of mutant TIE2 p.L914F during mouse development causes embryonic lethality and defects in vascular remodeling

Developmental Dynamics, EarlyView.
Abstract Background Sporadic venous malformation (VM) is associated with the hyperactivating p.L914F mutation in TIE2, a receptor tyrosine kinase essential for vascular development. This mutation is not found in hereditary VM, suggesting incompatibility with life when expressed during early vascular development.
Lindsay J. Bischoff, Sandra Schrenk, Kara Soroko, Chhiring Sherpa, Ashok Arasu, Damien Reynaud, Elisa Boscolo   +6 more
wiley   +1 more source

Rescue of Aberrant Splicing Caused by a Novel Complex Deep-intronic <i>ABCA4</i> Allele. [PDF]

Genes (Basel)
Maggi J, Feil S, Gloggnitzer J, Maggi K, Hanson JVM, Koller S, Gerth-Kahlert C, Berger W.   +7 more
europepmc   +1 more source

Role of SoxE transcription factors in development and disease

Developmental Dynamics, EarlyView.
Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley   +1 more source

Aberrant splicing prediction during human organ development

Wagner N, Neverov AM, Martin-Geary AC, Londhe S, Schröder C, Yépez VA, Whiffin N, Gagneur J.   +7 more
europepmc   +1 more source

Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing. [PDF]

JIMD Rep
Cassini T, Silverstein S, Behan M, Tifft CJ, Malicdan MC, Adams DR, Undiagnosed Diseases Network, Ahn SY, Regier DS.   +8 more
europepmc   +1 more source