Results 131 to 140 of about 399,425 (291)

Mutations in OOEP and NLRP5 identified in infertile patients with early embryonic arrest

Human Mutation, Volume 43, Issue 12, Page 1909-1920, December 2022., 2022
Abstract The subcortical maternal complex (SCMC), composed of several maternal‐effect genes, is vital for the development of oocytes and early embryos. Variants of SCMC‐encoding genes (NLRP2, NLRP5, TLE6, PADI6, and KHDC3L, but not OOEP and ZBED3) are associated with human oocyte maturation dysfunction, fertilization failure, and early embryonic arrest.
Xiaomei Tong, Jiamin Jin, Zhanhong Hu, Yingyi Zhang, Heng‐Yu Fan, Yin‐Li Zhang, Songying Zhang   +6 more
wiley   +1 more source

Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting

Human Mutation, Volume 43, Issue 12, Page 1956-1969, December 2022., 2022
Abstract Tuberous sclerosis complex (TSC) is a multi‐system genetic disorder. Most patients have germline mutations in TSC1 or TSC2 but, 10%–15% patients do not have TSC1/TSC2 mutations detected on routine clinical genetic testing. We investigated the contribution of low‐level mosaic TSC1/TSC2 mutations in unsolved sporadic patients and families with ...
Zimeng Ye, Sufang Lin, Xia Zhao, Mark F. Bennett, Natasha J. Brown, Mathew Wallis, Xinyi Gao, Li Sun, Jiarui Wu, Ravikiran Vedururu, Tom Witkowski, Fiona Gardiner, Chloe Stutterd, Jing Duan, Saul A. Mullen, George McGillivray, Simon Bodek, Giulia Valente, Matthew Reagan, Yi Yao, Lin Li, Li Chen, Amber Boys, Thiuni N. Adikari, Dezhi Cao, Zhanqi Hu, Victoria Beshay, Victor W. Zhang, Samuel F. Berkovic, Ingrid E. Scheffer, Jianxiang Liao, Michael S. Hildebrand   +31 more
wiley   +1 more source

The polymerase chain reaction-based SARS-CoV-2 detection

Universidad Médica Pinareña, 2020
Introduction: the reverse transcriptase polymerase chain reaction is a highly precise technique in the detection and amplification of genetic material, and therefore in the detection of viruses.
José Francisco Cancino-Mesa, Adrián Alejandro Vitón-Castillo, Jorge Casí-Torres   +2 more
doaj  

Inhibition by RNA of RNase H Activity Associated with Reverse Transcriptase in Rauscher Murine Leukemia Virus Cores [PDF]

, 1978
M. G. Sarngadharan, V. S. Kalyanaraman, Robert C. Gallo   +2 more
openalex   +1 more source

Viral metagenomic analysis reveals potential biological hazards in non‐human primates in a zoo

Animal Research and One Health, EarlyView.
The investigation identifies the presence of Encephalomyocarditis virus (EMCV), Baboon endogenous virus (BAV), Human endogenous retrovirus (HERV), and Baboon endogenous virus (BaEV) in non‐human primates (NHPs) at the Zoo, indicating potential zoonotic threats.
Ruiying Liang, Xinming Tang, Lin Liang, Jiabo Ding, Ye Tian, Yixian Qin, Sufen Zhao, Lixia Zhang, Tianchun Pu, Xuefeng Liu, Jinpeng Liu, Chenglin Zhang, Zibin Li, Ting Jia   +13 more
wiley   +1 more source

Destabilization of mutated human PUS3 protein causes intellectual disability

Human Mutation, Volume 43, Issue 12, Page 2063-2078, December 2022., 2022
The homodimer of pseudouridine synthase 3 converts uridines at position 39 in tRNAs to pseudouridine (ψ), which affects tRNA stability and regulates RNA–protein interactions. Several patient‐derived variants of PUS3 have been associated with neurodegenerative diseases.
Ting‐Yu Lin, Robert Smigiel, Bozena Kuzniewska, Joanna J. Chmielewska, Joanna Kosińska, Mateusz Biela, Anna Biela, Anna Kościelniak, Dominika Dobosz, Izabela Laczmanska, Andrzej Chramiec‐Głąbik, Jakub Jeżowski, Jakub Nowak, Monika Gos, Sylwia Rzonca‐Niewczas, Magdalena Dziembowska, Rafał Ploski, Sebastian Glatt   +17 more
wiley   +1 more source

Chicken egg yolk stabilizes the reverse transcriptase activity in type C particles produced by cultured MOPC-315 murine myeloma cells [PDF]

, 1978
Arnona Gazit, A. Yaniv, E Eylan
openalex   +1 more source

Topical Mupirocin Treatment Reduces Interferon and Myeloid Signatures in Cutaneous Lupus Erythematous Lesions Through Targeting of Staphylococcus Species

Arthritis &Rheumatology, EarlyView.
Objective Cutaneous lupus erythematosus (CLE) is an inflammatory skin manifestation of systemic lupus erythematosus. Type I interferons (IFNs) promote inflammatory responses and are elevated in CLE lesions. We recently reported that CLE lesions are frequently colonized with Staphylococcus aureus.
Lisa Abernathy‐Close, Joseph Mears, Allison C. Billi, Sirisha Sirobhushanam, Celine Berthier, Annie Lu, Zeran Zhang, Amy Hurst, Johann E. Gudjonsson, J. Michelle Kahlenberg   +9 more
wiley   +1 more source

Absence of Functional Autoantibodies Targeting Angiotensin II Receptor Type 1 and Endothelin‐1 Type A Receptor in Circulation and Purified IgG From Patients With Systemic Sclerosis

Arthritis &Rheumatology, EarlyView.
Objective Systemic sclerosis (SSc) is a rare but severe autoimmune disease characterized by immune dysregulation, fibrosis, and vasculopathy. Although previous studies have highlighted the presence of functional autoantibodies targeting the angiotensin II receptor type 1 (AT1) and endothelin‐1 type A receptor (ETAR), leading to autoantibody‐mediated ...
Wieke M. van Oostveen, Eva M. Hoekstra, E. W. Nivine Levarht, Ilana B. Kotliar, Thomas P. Sakmar, René E. M. Toes, Jeska K. de Vries‐Bouwstra, Laura H. Heitman, Cynthia M. Fehres   +8 more
wiley   +1 more source

An Immunosenescent CD8+ T Cell Subset in Patients with Axial Spondyloarthritis and Psoriatic Arthritis Links Spontaneous Motility to Telomere Shortening and Dysfunction

Arthritis &Rheumatology, EarlyView.
Objective A pathogenetic role of CD8+ T lymphocytes in radiographic axial spondyloarthritis (r‐axSpA) and other spondyloarthritis (SpA) is sustained by genome‐wide association studies and by the expansion of public T cell clonotypes in the target tissues.
Giorgia Paldino, Valentina Tedeschi, Valentina Proganò, Erica Salvati, Valerio Licursi, Eleonora Vertecchi, Alexandru L. Bivolaru, Emanuele Molteni, Rossana Scrivo, Mattia Congia, Alberto Cauli, Rosalba Caccavale, Marino Paroli, Martina Kunkl, Loretta Tuosto, Rosa Sorrentino, Maria Teresa Fiorillo   +16 more
wiley   +1 more source