Results 191 to 200 of about 91,338 (344)

DNA Copy Number Alterations and Copy Neutral Loss of Heterozygosity in Adult Ph-Negative Acute B-Lymphoblastic Leukemia: Focus on the Genes Involved. [PDF]

Int J Mol Sci, 2023
Risinskaya N, Gladysheva M, Abdulpatakhov A, Chabaeva Y, Surimova V, Aleshina O, Yushkova A, Dubova O, Kapranov N, Galtseva I, Kulikov S, Obukhova T, Sudarikov A, Parovichnikova E.   +13 more
europepmc   +1 more source

Loss of heterozygosity analysis of keratoacanthoma reveals multiple differences from cutaneous squamous cell carcinoma

, 1996
AJ Waring, Minoru Takata, Ishtiaq Rehman, J Rees   +3 more
openalex   +1 more source

Loss of hepatic SMLR1 causes hepatosteatosis and protects against atherosclerosis due to decreased hepatic VLDL secretion

Hepatology, EarlyView., 2022
The role of SMLR1 in lipid metabolism (high fat + cholesterol diet in mice) Abstract Background and Aims The assembly and secretion of VLDL from the liver, a pathway that affects hepatic and plasma lipids, remains incompletely understood. We set out to identify players in the VLDL biogenesis pathway by identifying genes that are co‐expressed with the ...
Willemien van Zwol, Antoine Rimbert, Justina C. Wolters, Marieke Smit, Vincent W. Bloks, Niels J. Kloosterhuis, Nicolette C. A. Huijkman, Mirjam H. Koster, Umesh Tharehalli, Simon M. de Neck, Colin Bournez, Marceline M. Fuh, Jeroen Kuipers, Sujith Rajan, Alain de Bruin, Henry N. Ginsberg, Gerard J. P. van Westen, M. Mahmood Hussain, Ludger Scheja, Joerg Heeren, Philip Zimmerman, Bart van de Sluis, Jan Albert Kuivenhoven   +22 more
wiley   +1 more source

Corrigendum: Genome plasticity driven by aneuploidy and loss of heterozygosity in Trypanosoma cruzi. [PDF]

Microb Genom, 2022
Cruz-Saavedra L, Schwabl P, Vallejo GA, Carranza JC, Muñoz M, Patino LH, Paniz-Mondolfi A, Llewellyn MS, Ramírez JD.   +8 more
europepmc   +1 more source

Association of Loss of Heterozygosity at the p53 Locus with Chemoresistance in Osteosarcomas [PDF]

, 1998
Akiteru Goto, Hiroaki Kanda, Yuichi Ishikawa, Seiichi Matsumoto, Noriyoshi Kawaguchi, Rikuo Machinami, Yo Kato, Tomoyuki Kitagawa   +7 more
openalex   +1 more source

Acquired copy-neutral loss of heterozygosity of chromosome 1p as a molecular event associated with marrow fibrosis in MPL-mutated myeloproliferative neoplasms.

Blood, 2013
E. Rumi, D. Pietra, P. Guglielmelli, R. Bordoni, I. Casetti, C. Milanesi, Emanuela Sant'Antonio, V. Ferretti, A. Pancrazzi, G. Rotunno, M. Severgnini, A. Pietrelli, C. Astori, E. Fugazza, C. Pascutto, E. Boveri, F. Passamonti, G. De Bellis, A. Vannucchi, M. Cazzola   +19 more
semanticscholar   +1 more source

Resilience to Endoplasmic Reticulum Stress Mitigates Membrane Hyperexcitability Underlying Late Disease Onset in a Murine Model of SCA6

Annals of Neurology, EarlyView.
Objective An enduring puzzle in many inherited neurological disorders is the late onset of symptoms despite expression of function‐impairing mutant protein early in life. We examined the basis for onset of impairment in spinocerebellar ataxia type 6 (SCA6), a canonical late‐onset neurodegenerative ataxia which results from a polyglutamine expansion in ...
Haoran Huang, Taylor L. Charron, Min Fu, Miranda Dunn, Deborah M. Jones, Praveen Kumar, Satoshi Ishishita, Allan‐Hermann Pool, Ashwinikumar Kulkarni, Genevieve Konopka, Vikram G. Shakkottai   +10 more
wiley   +1 more source

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

Hepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane   +19 more
wiley   +1 more source

Loss of heterozygosity on chromosome 9 and loss of chromosome 9 copy number are separate events in the pathogenesis of transitional cell carcinoma of the bladder [PDF]

, 1998
Angela A.G. van Tilborg, Arnold C. P. Hekman, Kees J. Vissers, Theodorus van der Kwast, Ellen C. Zwarthoff   +4 more
openalex   +1 more source

A Frank Assessment of SHANK: Impacts of Pathogenic Variations in SHANK3 on Preclinical Models of Phelan McDermid Syndrome

Autism Research, EarlyView.
ABSTRACT Although there are as many as 40 preclinical models of the neurodevelopmental disorder Phelan McDermid syndrome (PMS, or 22q13.3 deletion syndrome), detailed phenotypic analyses to compare the effects of different pathogenic variants and inform treatment design are lacking.
Vic Lin, Samantha M. Matta, Julia E. Dallman, Suzanne Hosie, Manon Moreau, Ashley E. Franks, Thomas Bourgeron, Elisa L. Hill‐Yardin   +7 more
wiley   +1 more source