Results 41 to 50 of about 2,755,429 (311)

Text Searching Allowing for Non-Overlapping Adjacent Unbalanced Translocations [PDF]

arXiv, 2021
In this paper we investigate the \emph{approximate string matching problem} when the allowed edit operations are \emph{non-overlapping unbalanced translocations of adjacent factors}. Such kind of edit operations take place when two adjacent sub-strings of the text swap, resulting in a modified string.
arxiv  

Comprehensive genetic screening for vascular Ehlers–Danlos syndrome through an amplification‐based next‐generation sequencing system

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 37-51, January 2023., 2023
Abstract Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder (HCTD) characterized by arterial dissection/aneurysm/rupture, sigmoid colon rupture, or uterine rupture. Diagnosis is confirmed by detecting heterozygous variants in COL3A1.
Tomomi Yamaguchi, Shujiro Hayashi, Daisuke Hayashi, Takeshi Matsuyama, Norimichi Koitabashi, Kenichi Ogiwara, Masaaki Noda, Chiai Nakada, Shinya Fujiki, Akira Furutachi, Yasuhiko Tanabe, Michiko Yamanaka, Aki Ishikawa, Miyako Mizukami, Asako Mizuguchi, Kazumitsu Sugiura, Makoto Sumi, Hirokuni Yamazawa, Atsushi Izawa, Yuko Wada, Tomomi Fujikawa, Yuri Takiguchi, Keiko Wakui, Kyoko Takano, Shin‐Ya Nishio, Tomoki Kosho   +25 more
wiley   +1 more source

Voter models with heterozygosity selection [PDF]

Annals of Applied Probability 2008, Vol. 18, No. 1, 59-99, 2007
This paper studies variations of the usual voter model that favor types that are locally less common. Such models are dual to certain systems of branching annihilating random walks that are parity preserving. For both the voter models and their dual branching annihilating systems we determine all homogeneous invariant laws, and we study convergence to ...
arxiv   +1 more source

A rare homozygous missense GDF2 (BMP9) mutation causing PAH in siblings: Does BMP10 status contribute?

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 228-233, January 2023., 2023
Abstract Pulmonary arterial hypertension (PAH) is a disease characterized by pathological remodeling of the pulmonary vasculature causing elevated pulmonary artery pressures and ultimately, right ventricular failure from chronic pressure overload. Heterozygous pathogenic GDF2 (encoding bone morphogenetic protein 9 (BMP9)) variants account for some (>1%)
Paul Upton, Susan Richards, Angela Bates, Karen Y. Niederhoffer, Nicholas W. Morrell, Susan Christian   +5 more
wiley   +1 more source

Characterization of phenotypic variation and genome aberrations observed among Phytophthora ramorum isolates from diverse hosts

BMC Genomics, 2018
Background Accumulating evidence suggests that genome plasticity allows filamentous plant pathogens to adapt to changing environments. Recently, the generalist plant pathogen Phytophthora ramorum has been documented to undergo irreversible phenotypic ...
Marianne Elliott, Jennifer Yuzon, Mathu Malar C, Sucheta Tripathy, Mai Bui, Gary A. Chastagner, Katie Coats, David M. Rizzo, Matteo Garbelotto, Takao Kasuga   +9 more
doaj   +1 more source

Loss of heterozygosity drives clonal diversity of Phytophthora capsici in China. [PDF]

PLoS ONE, 2013
Phytophthora capsici causes significant loss to pepper (Capsicum annum) in China and our goal was to develop single nucleotide polymorphism (SNP) markers for P. capsici and characterize genetic diversity nationwide. Eighteen isolates of P.
Jian Hu, Yongzhao Diao, Yuxin Zhou, Dong Lin, Yang Bi, Zhili Pang, Rebecca Trout Fryxell, Xili Liu, Kurt Lamour   +8 more
doaj   +1 more source

General theory for stochastic admixture graphs and F-statistics [PDF]

, 2018
We provide a general mathematical framework based on the theory of graphical models to study admixture graphs. Admixture graphs are used to describe the ancestral relationships between past and present populations, allowing for population merges and migration events, by means of gene flow.
arxiv   +1 more source

Two SOX11 variants cause Coffin–Siris syndrome with a new feature of sensorineural hearing loss

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 183-189, January 2023., 2023
Abstract Coffin‐Siris syndrome (CSS, OMIM#135900) is a rare congenital disorder associated with neurodevelopmental and dysmorphic features. The primary cause of CSS is pathogenic variants in any of 9 BAF chromatin‐remodeling complex encoding genes or the genes SOX11 and PHF6. Herein, we performed whole‐exome sequencing (WES) and a series of analyses of
Qiuquan Wang, Jie Wu, Jinyuan Yang, Shasha Huang, Yongyi Yuan, Pu Dai   +5 more
wiley   +1 more source

M6P/IGF2R loss of heterozygosity in head and neck cancer associated with poor patient prognosis

BMC Cancer, 2003
Background The mannose 6-phosphate/insulin-like growth factor 2 receptor (M6P/IGF2R) encodes for a multifunctional receptor involved in lysosomal enzyme trafficking, fetal organogenesis, cytotoxic T cell-induced apoptosis and tumor suppression.
Jang Hong-Seok, Oka Yoshihiko, Killian J Keith, Brizel David M, Jamieson Timothy A, Fu Xiaolong, Clough Robert W, Vollmer Robin T, Anscher Mitchell S, Jirtle Randy L   +9 more
doaj   +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