Results 91 to 100 of about 22,914 (233)

Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing [PDF]

, 2012
Fanconi anemia (FA) is a rare inherited disease characterized by developmental defects, short stature, bone marrow failure, and a high risk of malignancies. FA is heterogeneous: 15 genetic subtypes have been distinguished so far.
Ameziane, N., Floor, K., Gille, J.J.P., Joenje, H., Kerkhoven, L., Winter, J.P. de   +5 more
core   +3 more sources

Testicular SIRT1 Loss Reveals an Aging‐Like Proteomic Landscape and Precipitates Reproductive Deterioration

Andrology, EarlyView.
ABSTRACT Background Advanced paternal age is associated with reduced male fertility and testicular dysfunction. Among the molecular regulators involved in aging, SIRT1, a NAD+‐dependent deacetylase, plays a pivotal role in maintaining oxidative balance and cellular homeostasis.
María Iniesta‐Cuerda, Jiřina Havránková, Hedvika Řimnáčová, Jiří Moravec, František Liška, Martin Knytl, Milena Králíčková, Jan Nevoral   +7 more
wiley   +1 more source

Multimodal Assessment of Kidney Quality During 24‐h of Normothermic Machine Perfusion

Artificial Organs, EarlyView.
Normothermic machine perfusion (NMP) has emerged as a promising tool for assessing kidney quality prior to transplantation; however, reliable biomarkers remain to be established. In this study, thirteen porcine kidneys were perfused for 24 h using an autologous leukocyte‐filtered whole blood‐based perfusate applying urine recirculation.
Marlene Pühringer, Magdalena Kött, Andras T. Meszaros, Michael J. Blumer, Bettina Zelger, Stefan Redl, Martin Hermann, Thomas Resch, Simon Mathis, Gabriel Putzer, Judith Martini, Christina Bogensperger, Franka Messner, Julia Hofmann, Margot Fodor, Andrea Griesmacher, Annemarie Weissenbacher, Theresa Hautz, Gert Mayer, Hannes Neuwirt, Gerald Brandacher, Silvia Oberparleiter, Stefan Schneeberger   +22 more
wiley   +1 more source

What Is Space Bioethics?

Bioethics, EarlyView.
ABSTRACT Classical bioethics examines moral issues in terrestrial medicine and the life sciences. According to Konrad Szocik, space bioethics merely relocates those questions to harsher environments. We argue that this view is incomplete: space bioethics is a genuinely original domain.
Maurizio Balistreri
wiley   +1 more source

Expanding the horizons of embryo screening: performance and case studies of preimplantation genetic testing via whole genome sequencing

Academia Molecular Biology and Genomics
Conventional preimplantation genetic testing for aneuploidy (PGT-A) and for monogenic disorders (PGT-M) is very limited in scope. These methods typically assess chromosomal ploidy or target only one or two specific variants carried by the ...
Benjamin Podgursky, Maria Katz, Shenglai Li, Thomas Giardina, Becca Girod, Dhruva Chandramohan, Qinnan Zhang, Michael Feinman, Barry Behr, Jerry Lanchbury, Noor Siddiqui, Funda Suer, Yuntao Xia   +12 more
doaj   +1 more source

Leveraging paired germline and somatic analysis to improve the classification of DDX41 variants

British Journal of Haematology, EarlyView.
Summary Constitutional pathogenic variants in DDX41 predispose to myelodysplasia and acute myeloid leukaemia. Acquisition of subsequent somatic hits in the second allele is frequent, with notable recurrent variants at key hotspots. Sequencing of Deoxyribonucleic acid from blood/marrow of 239 patients with suspected/confirmed haematological malignancies
Andrew George, Elisabeth Rolf, Monika Domeradzka, Sara Ribeiro, Brittany Mills, April Hallett, Suzanne Macmahon, Paula Proszek, Ridwan Shaikh, Lina Yuan, Michael Hubank, Mikel Valganon Petrizan, Terri P. McVeigh, Jamshid S. Khorashad   +13 more
wiley   +1 more source

Twenty-seven years of controversy: The perils of PGD [PDF]

, 2018
It has been 27 years since the Human Fertilisation and Embryology Act 1990 was passed in the United Kingdom in response to advances in fertility treatment.
Cherkassky, Lisa
core  

Phosphatase PPP1CC Regulates the First Lineage Segregation by GAS5 in Mouse Preimplantation Embryos

Cell Proliferation, EarlyView.
Subcortical GAS5 directs PPP1CC phosphatase spatiotemporal positioning during mouse morula‐blastocyst transition, controlling YAP dephosphorylation to drive first embryonic lineage specification. ABSTRACT The transcriptional effector of the Hippo signalling pathway, YAP, regulates the first lineage specification in mouse preimplantation embryos ...
Jianwu Wang, Yan Zhang, Laijin Wu, Hongshuang Xie, Guang Yang, Yiwei Zhang, Cheng Huang, Shanyi Chou, Xuehan Li, Zhonghua Liu, Jiaqiang Wang   +10 more
wiley   +1 more source

Preimplantation Genetic Screening in In Vitro Fertilization (IVF): A Comprehensive Review of Ethical, Clinical, and Technological Developments [PDF]

Journal of Medical and Life Science
Preimplantation Genetic Testing for Aneuploidy (PGT-A) and Preimplantation Genetic Screening (PGS) have become indispensable tools in In Vitro Fertilization (IVF) to increase pregnancy rates and enhance embryo choice.
Zina Al-Obaidi, Nabaa Al-Nawab, Mustafa Hadi, Ahmed Flayyih Hasan   +3 more
doaj   +1 more source

Abnormal cleavage patterns in equine in vitro‐produced embryos lead to higher early pregnancy loss

Equine Veterinary Journal, EarlyView.
Summary Background Despite significant advances, in vitro production (IVP) of equine embryos continues to lack standardised embryo classification criteria and is associated with increased rates of early pregnancy loss compared with in vivo‐derived blastocysts.
Soledad Martin‐Pelaez, Alejandro de la Fuente, Kazuki Takahashi, Hugo Monteiro, Mauricio Mendes, Stuart Meyers, Pouya Dini   +6 more
wiley   +1 more source