Results 71 to 80 of about 2,885,338 (147)

Effect of AON targeting the c.386G>A cryptic splice site on the splicing profile of murine minigenes.

, 2015
Wild-type (wt) and mutant (mut) murine minigenes transfected in Hep3B cells were cotransfected with 20 μM of AON and RT-PCR analysis performed after 24 h. SCR, scrambled oligonucleotide. The schematic drawings on both sides show the identity of the bands
Belén Pérez (2536582), Johannes Häberle (719209), Hiu Man Viecelli (719206), Magdalena Ugarte (719208), Rocío Sánchez-Alcudia (719205), Lourdes Ruiz Desviat (719210), Beat Thöny (347435), Veronique Rüfenacht (719207), Ana Rivera-Barahona (719204)   +8 more
core   +1 more source

Unnatural Wills: Inheritance Disputes and Inequality

The British Journal of Sociology, EarlyView.
ABSTRACT Within the conceptual frame of relational economic sociology, inheritance disputes are a canonical form of relational mismatch. But the social patterning of relational mismatches, and their various ties to inequality, remain murky. In this paper, I examine all known inheritance disputes in Dallas from 1895–1945 within their social context to ...
Shay O'Brien
wiley   +1 more source

New splice site acceptor mutation in AIRE gene in autoimmune polyendocrine syndrome type 1.

PLoS ONE, 2014
Autoimmune polyglandular syndrome type 1 (APS-1, OMIM 240300) is a rare autosomal recessive disorder, characterized by the presence of at least two of three major diseases: hypoparathyroidism, Addison's disease, and chronic mucocutaneous candidiasis.
Mireia Mora, Felicia A Hanzu, Marta Pradas-Juni, Gloria B Aranda, Irene Halperin, Manuel Puig-Domingo, Sira Aguiló, Eduardo Fernández-Rebollo   +7 more
doaj   +1 more source

Museomics Deciphers the Phylogeographic Differentiation and Conservation Status of a Montane Pheasant

Integrative Zoology, EarlyView.
Museum specimens provide a rich source of historical DNA, enabling insights into phylogenetic relationships and demographic history of the endangered Koklass Pheasant. Our findings uncovered a previously unrecognized population in Guizhou province and highlighted elevated extinction risk in populations from Anhui province and Southern China, informing ...
Zhiyong Jiang, Yalin Cheng, Shuai Zhang, Wenqing Zang, Peng He, Dezhi Zhang, Jinjuan Mei, Peng Cui, Yanhua Qu, Hailong Wu   +9 more
wiley   +1 more source

Cryptic splice site usage in exon 7 of the human fibrinogen Bbeta-chain gene is regulated by a naturally silent SF2/ASF binding site within this exon

, 2006
In this work we report the identification of a strong SF2/ASF binding site within exon 7 of the human fibrinogen Bbeta-chain gene (FGB). Its disruption in the wild-type context has no effect on exon recognition.
E. Buratti, S. Spena, M.T. Tenchini
core   +1 more source

What is (de)politicization and what is wrong with it?

American Journal of Political Science, EarlyView.
Abstract This article attempts to clarify the meaning of (de)politicization. Politicization sometimes refers to the inappropriate intrusion of partisan loyalties in nonpolitical social domains (affective politicization). Politicization can also constitute an ideal of civic agency and energy (contestatory politicization).
Dimitrios Halikias
wiley   +1 more source

PROS1 novel splice‐site variant decreases protein S expression in patients from two families with thrombotic disease

Clinical Case Reports, 2017
Key Clinical Message Our results prove that c.1871‐14T>G is causative of type I PS deficiency, highlighting the importance of performing mRNA‐based studies in order to evaluate variants pathogenicity.
Juliane Menezes, Célia Ventura, João Matos Costa, Elsa Parreira, Luísa Romão, João Gonçalves   +5 more
doaj   +1 more source

Monsters of finance

American Ethnologist, EarlyView.
Abstract An anthropology of horror can serve as a vernacular critique of financial speculation. Drawing on fieldwork in San Pedro, Paraguay, I track horror across three registers: pombero tricksters; plata yvyguy (buried money) as a founding myth of postwar finance; and obligations binding sesame farmers to monsters, patrones, and creditors.
Caroline E. Schuster
wiley   +1 more source

Dystrophia Smolandiensis is characterized by a novel NQO1 variant and a distinct phenotype from COL17A1‐associated epithelial recurrent erosion dystrophy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To determine the molecular cause of the two epithelial recurrent erosion dystrophies, Dystrophia Smolandiensis and Dystrophia Helsinglandica, and to identify phenotypic differences between the two conditions. Methods DNA samples and clinical data from structured interview records were obtained from the Swedish families in which ...
Karl De Geer, Kristina Lagerstedt‐Robinson, Daniel Nilsson, Cilla Söderhäll, Björn Hammar, Erik Björck   +5 more
wiley   +1 more source

Potential ASO-based personalized treatment for Charcot-Marie-Tooth disease type 2S

Molecular Therapy: Nucleic Acids
Immunoglobulin mu-binding protein 2 (IGHMBP2) pathogenic variants lead to a spectrum of disorders characterized by alpha-motor neuron degeneration.
Sandra Smieszek, Bartlomiej Przychodzen, Christina Tyner, Caroline Johnson, Haimeng Bai, Jennifer M. Kwon, D. Walker Hagan, Caitlyn Niccum, Rocky Brighton, Kenneth Hawkins, Romy Aiken, Ahmad Nawaz, Xiufang Guo, James Hickman, Christos M. Polymeropoulos, Gunther Birznieks, Mihael H. Polymeropoulos   +16 more
doaj   +1 more source