Results 11 to 20 of about 2,755,429 (311)

PB1836: LOSS OF HETEROZYGOSITY IN AML PATIENTS WITH INV(16) [PDF]

HemaSphere, 2023
Dmitry Bessmertniy, Zalina Fidarova, Irina Lukyanova, Natalia Risinskaya, Andrey Sudarikov   +4 more
doaj   +2 more sources

Loss of heterozygosity exploited for collateral lethality-based cancer therapy [PDF]

EBioMedicine
Hai Fang
doaj   +2 more sources

Phenotypic continuum of NFU1‐related disorders

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 2025-2035, December 2022., 2022
Abstract Bi‐allelic variants in Iron–Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early‐onset rapidly fatal leukoencephalopathy. We report 19 affected individuals from 10 independent families with ultra‐rare bi‐allelic NFU1 missense variants associated with a
Rauan Kaiyrzhanov, Maha S. Zaki, Tracy Lau, Sambuddha Sen, Reza Azizimalamiri, Mina Zamani, Gözde Yeşil Sayin, Taru Hilander, Stephanie Efthymiou, Viorica Chelban, Ruth Brown, Kyle Thompson, Maria Irene Scarano, Jaya Ganesh, Kairgali Koneev, Ismail Musab Gülaçar, Richard Person, Dinara Sadykova, Yerdan Maidyrov, Tahereh Seifi, Aizhan Zadagali, Geneviève Bernard, Katrina Allis, Houda Zghal Elloumi, Amanda Lindy, Ehsan Taghiabadi, Sumit Verma, Rachel Logan, Brian Kirmse, Renkui Bai, Shaimaa M. Khalaf, Mohamed S. Abdel‐Hamid, Alireza Sedaghat, Gholamreza Shariati, Mahmoud Issa, Jawaher Zeighami, Hasnaa M. Elbendary, Garry Brown, Robert W. Taylor, Hamid Galehdari, Joseph J. Gleeson, Christopher J. Carroll, James A. Cowan, Andres Moreno‐De‐Luca, Henry Houlden, Reza Maroofian   +45 more
wiley   +1 more source

Loss of heterozygosity: what is it good for? [PDF]

BMC Medical Genomics, 2015
Loss of heterozygosity (LOH) is a common genetic event in cancer development, and is known to be involved in the somatic loss of wild-type alleles in many inherited cancer syndromes. The wider involvement of LOH in cancer is assumed to relate to unmasking a somatically mutated tumour suppressor gene through loss of the wild type allele.We analysed 86 ...
Samantha E. Boyle, Simone M Rowley, Georgina L Ryland, Georgina L Ryland, Kylie L. Gorringe, Kylie L. Gorringe, David L Goode, David Y.H. Choong, Ian G. Campbell, Ian G. Campbell, Maria A. Doyle, David D.L. Bowtell, Jason Li, Richard W. Tothill   +13 more
openaire   +4 more sources

Clinical heterogeneity in a family with flail arm syndrome and review of hnRNPA1‐related spectrum

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1910-1917, December 2022., 2022
Abstract Objective Flail arm syndrome (FAS) is one of the atypical subtypes of amyotrophic lateral sclerosis (ALS). Mutations in hnRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1 are a rare genetic cause of ALS. Herein, marked clinical heterogeneity of FAS in a pedigree with a known hnRNPA1 variant was described to raise early ...
Xiaochen Han, Feixia Zhan, Yuxin Yao, Li Cao, Jianguo Liu, Sheng Yao   +5 more
wiley   +1 more source

The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1941-1952, December 2022., 2022
Abstract Objective The objectives of this study were to define the clinical and biochemical spectrum of spinal muscular atrophy with progressive myoclonic epilepsy (SMA‐PME) and to determine if aberrant cellular ceramide accumulation could be normalized by enzyme replacement.
Michelle M. Lee, Graeme S. V. McDowell, Darryl C. De Vivo, Daniel Friedman, Samuel F. Berkovic, Maria Spanou, Argirios Dinopoulos, Katheryn Grand, Pedro A. Sanchez‐Lara, Michelle Allen‐Sharpley, Jodi Warman‐Chardon, Alexander Solyom, Thierry Levade, Edward H. Schuchman, Steffany A. L. Bennett, David A. Dyment, Toni S. Pearson   +16 more
wiley   +1 more source

Probabilistic Models of k-mer Frequencies (Extended Abstract) [PDF]

Lecture Notes in Computer Science, vol 12813. Springer, 2021, p.227-236, 2021
In this article, we review existing probabilistic models for modeling abundance of fixed-length strings (k-mers) in DNA sequencing data. These models capture dependence of the abundance on various phenomena, such as the size and repeat content of the genome, heterozygosity levels, and sequencing error rate.
arxiv   +1 more source

Molecular and clinicopathological analysis of three cases of gastric juvenile polyposis

JGH Open, 2022
Background and Aim Juvenile polyposis (JP) is a rare disease known to be associated with mutations either in SMAD4/BMPR1A. JP is known to often develop into malignant tumors, with a reported probability of 9–50%.
Yuya Yamashiro, Yuka Yanai, Tsutomu Takeda, Takuo Hayashi, Yoichi Akazawa, Noboru Yatagai, Hiroya Ueyama, Hidetaka Eguchi, Akihito Nagahara, Takashi Yao, Tsuyoshi Saito   +10 more
doaj   +1 more source

Genetic alterations of tumor suppressor gene in sporadic colorectal cancers [PDF]

Glasnik Antropološkog Društva Srbije, 2012
Colorectal cancer with its frequency, high mortality rate as well as many etiological unknowns is a challenge to contemporary science. Finally, genetic information could be used in near future for prevention of colorectal cancer, its early diagnosis and ...
Hadžiavdić Vesna, Eminović Izet, Hamidović Hajrija, Pavlović-Čalić Nada   +3 more
doaj   +1 more source

Molecular clonality analysis of esophageal adenocarcinoma by multiregion sequencing of tumor samples

BMC Research Notes, 2017
Background Intratumor heterogeneity has been demonstrated in several cancer types, following a model of branched evolution. It is unknown to which extent intratumor heterogeneity is applicable to esophageal adenocarcinoma. Therefore the aim of this study
Anna M. J. van Nistelrooij, Ronald van Marion, Linetta B. Koppert, Katharina Biermann, Manon C. W. Spaander, Hugo W. Tilanus, J. Jan B. van Lanschot, Bas P. L. Wijnhoven, Winand N. M. Dinjens   +8 more
doaj   +1 more source