Results 81 to 90 of about 117,669 (273)

Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome [PDF]

, 2012
A homozygous mutational change in the Ataxia-Telangiectasia and RAD3 related (ATR) gene was previously reported in two related families displaying Seckel Syndrome (SS). Here, we provide the first identification of a Seckel Syndrome patient with mutations
A Ciccia, A Klingseisen, A Rauch, A. Malcolm R. Taylor, AD Borglum, Andrew O. M. Wilkie, D Cortez, DL Guernsey, E Griffith, E Kalay, EA Nam, Emma Hobson, EN Noensie, F Majewski, Gillian Carpenter, GK Alderton, GK Thornton, Grant S. Stewart, HL Ball, IM Ward, J Falck, J Goodship, JG Hall, Katrina Prescott, L Zou, LI Toledo, LS Bicknell, LS Bicknell, M Murga, M O'Driscoll, M Willems, Margaret Barrow, Mark O'Driscoll, Michiko Matsuse, Mohnish Suri, MS Al-Dosari, ND Lakin, Norisato Mitsutake, P Qvist, Penny A. Jeggo, Philip J. Byrd, PR Andreassen, Pradeep Vasudevan, RA Chanoux, RJ Gorlin, SA de Munnik, Sarah Walker, Siripan Limsirichaikul, Tom Stiff, Tomoo Ogi, V Paciotti, Y Namiki, Yuka Nakazawa   +52 more
core   +5 more sources

Network divergence analysis identifies adaptive gene modules and two orthogonal vulnerability axes in pancreatic cancer

Molecular Oncology, EarlyView.
Tumors contain diverse cellular states whose behavior is shaped by context‐dependent gene coordination. By comparing gene–gene relationships across biological contexts, we identify adaptive transcriptional modules that reorganize into distinct vulnerability axes.
Brian Nelson, Lyanne Delgado‐Coka, Natalia Marchenko, Luisa F. Escobar‐Hoyos, Kenneth R. Shroyer, Alisa Yurovsky, Trey Ideker, Gábor Balázsi, Thomas MacCarthy, Scott Powers   +9 more
wiley   +1 more source

Enhancement of therapeutic transgene insertion for treatment of murine phenylketonuria

Molecular Therapy: Nucleic Acids
Low in vivo transgene integration frequency limits the therapeutic efficacy of homology-directed repair (HDR) as a treatment for genetic disorders. This study demonstrates improved efficacy of HDR-mediated gene insertion for the treatment of murine ...
Michael A. Martinez, Daelyn Y. Richards, Shelley R. Winn, Adrian M. Baris, Anne Vonada, Laura Harper, Cary O. Harding   +6 more
doaj   +1 more source

Mechanisms of chemotherapy-induced human ovarian aging: double strand DNA breaks and microvascular compromise [PDF]

, 2011
The mechanism of chemotherapy-induced acceleration of ovarian aging is not fully understood. We used doxorubicin, a widely used cancer chemotherapeutic, in a variety of in vivo xenograft, and in vitro models to investigate the impact of chemotherapy ...
Darzynkiewicz, Zbigniew, Heytens, Elke, Oktay, Kutluk, Soleimani, Reza   +3 more
core   +1 more source

Deciphering transcriptional plasticity in pancreatic ductal adenocarcinoma reveals alterations in sensory neuron innervation

Molecular Oncology, EarlyView.
Pancreatic sensory neurons innervating healthy and PDAC tissue were retrogradely labeled and profiled by single‐cell RNA sequencing. Tumor‐associated innervation showed a dominant neurofilament‐positive subtype, altered mitochondrial gene signatures, and reduced non‐peptidergic neurons.
Elena Genova, Michele Montrone, Uday Rangaswamy, Francesco Diversi, Irene Schiavo, Denise Ferrarini, Roberta Di Florio, Irene Longo, Michele Coscia, Nicola Zamboni, Giorgia Demontis, Lisa Veghini, Vincenzo Corbo, Remo Sanges, Paul Heppenstall   +14 more
wiley   +1 more source

Herpes simplex virus-type1 (HSV-1) impairs DNA repair in cortical neurons [PDF]

, 2016
Several findings suggest that Herpes simplex virus-1 (HSV-1) infection plays a role in the neurodegenerative processes that characterize Alzheimer's disease (AD), but the underlying mechanisms have yet to be fully elucidated.
Alessio Cardinale, Anna Giovanetti, Anna Teresa Palamara, Anna Teresa Palamara, Cristiana Mollinari, Cristiana Mollinari, Daniela Merlo, Enrico Garaci, Giorgia Aversa, Giovanna De Chiara, Giovanna De Chiara, Maria Elena Marcocci, Mauro Racaniello   +12 more
core   +2 more sources

CD47 promotes mitogen‐activated protein kinase and epithelial‐to‐mesenchymal transition molecular programs to drive prometastatic phenotypes in non‐small cell lung cancer

Molecular Oncology, EarlyView.
Beyond its role in immune evasion, this study identified that CD47 drives tumor‐intrinsic signaling in non‐small cell lung cancer (NSCLC). Transcriptomic profiling and functional studies revealed that CD47 regulates cell adhesion, migration, and metastasis through an ERK–EMT signaling axis.
Asa P.Y. Lau, Lilian G. Zhai, Ryunosuke Hoshi, Zackary Rousseau, Abraam Zakhary, Yin Fang Wu, Rola M. Saleeb, Heyu Ni, Kelsie L. Thu   +8 more
wiley   +1 more source

Natural Course of Neonatal Progeroid Syndrome

Pediatrics and Neonatology, 2009
Several progeroid disorders presenting a specific “old-man” appearance since birth or childhood have been described. Here, five patients with a history of severe intrauterine and postnatal growth retardation and pseudohydrocephaloid cranium noted after ...
Jia-Woei Hou
doaj   +1 more source

dUTPase is essential in zebrafish development and possesses several single‐nucleotide variants with pronounced structural and functional consequences

FEBS Open Bio, EarlyView.
dUTPases are involved in balancing the appropriate nucleotide pools. We showed that dUTPase is essential for normal development in zebrafish. The different zebrafish genomes contain several single‐nucleotide variations (SNPs) of the dut gene. One of the dUTPase variants displayed drastically lower protein stability and catalytic efficiency as compared ...
Viktória Perey‐Simon, Angéla Békesi, Latifa Kazzazy, Jázmin Mihály, Máté Varga, Beáta G. Vértessy, Kinga Nyíri   +6 more
wiley   +1 more source

Inherited deficiency of DIAPH1 identifies a DNA double strand break repair pathway regulated by γ-actin

Nature Communications
DNA double strand break repair (DSBR) represents a fundamental process required to maintain genome stability and prevent the onset of disease. Whilst cell cycle phase and the chromatin context largely dictate which repair pathway is utilised to restore ...
Beth L. Woodward, Sudipta Lahiri, Anoop S. Chauhan, Marcos Rios Garcia, Lucy E. Goodley, Thomas L. Clarke, Mohinder Pal, Angelo Agathanggelou, Satpal S. Jhujh, Anil N. Ganesh, Fay M. Hollins, Valentina Galassi Deforie, Reza Maroofian, Stephanie Efthymiou, Andrea Meinhardt, Christopher G. Mathew, Michael A. Simpson, Heather C. Mefford, Eissa A. Faqeih, Sergio D. Rosenzweig, Stefano Volpi, Gigliola Di Matteo, Caterina Cancrini, Annarita Scardamaglia, Fiona Shackley, E. Graham Davies, Shahnaz Ibrahim, Peter D. Arkwright, Maha S. Zaki, Tatjana Stankovic, A. Malcolm R. Taylor, Antonina J. Mazur, Nataliya Di Donato, Henry Houlden, Eli Rothenberg, Grant S. Stewart   +35 more
doaj   +1 more source