Results 131 to 140 of about 125,272 (358)

Case report: Deep sequencing and long-read genome sequencing refine prior genetic analyses in families with apparent gonadal mosaicism in PIK3CD-related activated PI3K delta syndrome

Frontiers in Immunology
Gonadal and gonosomal mosaicism describe phenomena in which a seemingly healthy individual carries a genetic variant in a subset of their gonadal tissue or gonadal and somatic tissue(s), respectively, with risk of transmitting the variant to their ...
Halyn Orellana, Jia Yan, Alex Paul, Mari Tokita, Yan Ding, Rajarshi Ghosh, Katie L. Lewis, Joie Davis, Leila Jamal, Colleen Jodarski, Morgan Similuk, Nermina Saucier, Zhanyang Zhu, Yihe Wang, Sitao Wu, Jason Ruggieri, NIAID Centralized Sequencing Program Working Group, Helen C. Su, Gulbu Uzel, Shareef Nahas, Megan Cooper, Magdalena A. Walkiewicz, Bryce A. Seifert, Nadjalisse Reynolds-Lallement, Rachel Gore Moses, Michael Gore Moses, Sarah Bannon, Sophie Byers, Ekaterina Damskey, Sruthi Srinivasan, Adrienne Borges, Nicole Gentile   +31 more
doaj   +1 more source

Characterization of a Rare Mosaicism in Autosomal Translocation of t(5;21) Using Conventional Cytogenetics and FISH Methods [PDF]

, 2019
Sadaf Omori Sarabi, Javad Karimzad Hagh, Claudia Behrend, Seyed Behrooz Mohseni, Mitra Ansari Dezfouli, Seyed Khalil Rashidi, Mir Davood Omrani, Mir Davood Omrani   +7 more
openalex   +1 more source

Structural Basis of the Membrane Association by the Conserved RocS Membrane‐Targeting Sequence in Streptococcus

Advanced Science, EarlyView.
Chromosome segregation in Streptococcus pneumoniae depends on RocS, a bitopic protein whose membrane‐anchoring mechanisms were unclear. Using NMR and AFM, this study reveals that the widely conserved RocS anchor binds to membranes via a conserved kink‐helix motif which inserts into lipid nanodomains.
Ana Álvarez‐Mena, Estelle Morvan, Clara Lambert, Anagha Kallisseri Parambil, Martin Lefeuvre, Zeren Xu, Nadia El Mammeri, Florian Malard, Erick J. Dufourc, Cécile Feuillie, Christophe Grangeasse, Birgit Habenstein   +11 more
wiley   +1 more source

Virus Resistant and Susceptible Transgenic Nicotiana benthamiana Plants Expressing Coat Protein Gene of Zucchini green mottle mosaic virus for LMO Safety Assessment [PDF]

, 2004
Min-Jea Kim, Sun Hee Choi, Tae Sung Kim, Min-Hye Park, Hee-Rae Lim, Kyung-Hee Oh, Tae-San Kim, Min-Hyo Lee, Ki Hyun Ryu   +8 more
openalex   +1 more source

In Situ Liquid‐Cell Transmission Electron Microscopy Insights Into Lithium‐Ion Battery Materials Degradation: Challenges and Emerging Solutions

Advanced Science, EarlyView.
Lithium‐ion battery degradation arises from complex, localized processes during operation, limiting long‐term performance. In situ electrochemical liquid cell TEM provides unique access to these mechanisms. This review summarizes degradation phenomena revealed by liquid cell TEM, traces the evolution of the three main cell designs, compares their ...
Walid Dachraoui, Rolf Erni
wiley   +1 more source

Low-level mosaic trisomy 21 at amniocentesis and cordocentesis in a pregnancy associated with a favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line

Taiwanese Journal of Obstetrics & Gynecology
Objective: We present low-level mosaic trisomy 21 at amniocentesis and cordocentesis in a pregnancy associated with a favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line.
Chih-Ping Chen, Fang-Tzu Wu, Yen-Ting Pan, Meng-Shan Lee, Wayseen Wang   +4 more
doaj   +1 more source

AlF3 Mediated In‐Situ Cathode Interface Stabilization Enables High‐Rate and Long‐Life Na‐Ion Batteries at Elevated Temperature

Advanced Science, EarlyView.
Ultrathin AlF3 coating facilitates the formation of an inorganic‐dominated cathode electrolyte interphase (CEI), predominantly composed of NaF/AlF3/NaAlF4. This CEI layer effectively suppresses detrimental interfacial side reactions while simultaneously enhancing the diffusion kinetics of Na+.
Ya‐Meng Yin, Qinxia Liu, Zhiyuan Zhang, Weixiao Wang, Cunyuan Pei, Fangyu Xiong, Jinghui Chen, Qinyou An, Cai‐Hong Yang, Dong‐Sheng Li   +9 more
wiley   +1 more source

Gonadal Mosaicism as a Rare Inheritance Pattern in Recessive Genodermatoses: Report of Two Cases with Pseudoxanthoma Elasticum and Literature Review

Current Issues in Molecular Biology
Germline mosaicism in autosomal recessive disorders is considered a rare disease mechanism with important consequences for diagnosis and patient counseling.
Lisa Dangreau, Mohammad J. Hosen, Julie De Zaeytijd, Bart P. Leroy, Paul J. Coucke, Olivier M. Vanakker   +5 more
doaj   +1 more source

Mosaic attenuation [PDF]

Jornal Brasileiro de Pneumologia, 2019
Edson Marchiori, Bruno Hochhegger, Gláucia Zanetti   +2 more
openaire   +3 more sources

PIK3CA Mutations Downregulate PPT1 to Promote Adipogenesis by Suppressing P300 Depalmitoylation and Phase Separation

Advanced Science, EarlyView.
This study demonstrates that somatic PIK3CA mutations suppress PPT1 expression via activation of the PI3K–AKT–c‐JUN axis. This reduction in PPT1 weakens its interaction with P300, thereby increasing palmitoylation at C1176 of P300 and protecting P300 from lysosomal degradation.
Hongrui Chen, Zening Huang, Rui Chang, Wei Gao, Yajing Qiu, Bin Sun, Chen Hua, Xiaoxi Lin   +7 more
wiley   +1 more source