Article
Multidisciplinary Sciences
Sock Hoai Chan, Yasmin Bylstra, Jing Xian Teo, Jyn Ling Kuan, Nicolas Bertin, Mar Gonzalez-Porta, Maxime Hebrard, Roberto Tirado-Magallanes, Joanna Hui Juan Tan, Justin Jeyakani, Zhihui Li, Jin Fang Chai, Yap Seng Chong, Sonia Davila, Liuh Ling Goh, Eng Sing Lee, Eleanor Wong, Tien Yin Wong, Shyam Prabhakar, Jianjun Liu, Ching-Yu Cheng, Birgit Eisenhaber, Neerja Karnani, Khai Pang Leong, Xueling Sim, Khung Keong Yeo, John C. Chambers, E-Shyong Tai, Patrick Tan, Saumya S. Jamuar, Joanne Ngeow, Weng Khong Lim
Summary: This study characterizes the clinically significant genetic variation in Asian populations and reveals the diverse genetic risk burden attributable to ancestry-specific variants. It also identifies individuals with variants discordant to their self-reported ethnicity, possibly due to cryptic admixture. Additionally, the study highlights the presence of pharmaceutical genetic variants in a significant proportion of Asians.
NATURE COMMUNICATIONS
(2022)
Article
Biochemistry & Molecular Biology
Thomas A. Guilliam, Joseph T. P. Yeeles
Summary: The study shows that a yeast replisome is inherently tolerant to the oxidative lesion Tg, efficiently bypassing leading-strand Tg even in the absence of TLS machinery. A switch from Pol epsilon to Pol delta after helicase-polymerase uncoupling promotes rapid, efficient, and error-free lesion bypass at physiological nucleotide levels. Replicase switching may facilitate continued leading-strand synthesis when Pol delta is more effective at bypassing damage than Pol epsilon.
Article
Chemistry, Multidisciplinary
Sara Bracaglia, Simona Ranallo, Kevin W. Plaxco, Francesco Ricci
Summary: The electrochemical DNA circuit designed for detecting specific antibodies is sensitive, specific, and selective, suitable for use in complex media. This versatile circuit can detect multiple different antibodies and conduct multiplexed detection without crosstalk.
Article
Multidisciplinary Sciences
Allison J. Lopatkin, Sarah C. Bening, Abigail L. Manson, Jonathan M. Stokes, Michael A. Kohanski, Ahmed H. Badran, Ashlee M. Earl, Nicole J. Cheney, Jason H. Yang, James J. Collins
Summary: The study discovered that Escherichia coli undergo metabolic changes when adapting to antibiotics, with some noncanonical genes implicated in antibiotic resistance. These metabolic alterations lead to decreased basal respiration, avoiding metabolic toxicity and reducing drug lethality. Additionally, some metabolism-specific mutations identified are overrepresented in the genomes of >3500 clinical E. coli pathogens, indicating clinical relevance.
Article
Cell Biology
Vinayaki Pillai, Alka Gupta, A. V. S. S. N. Rao, Rajani Kant Chittela
Summary: In this study, we characterized ten clinically relevant variants of human Translin protein and found that these variants can modulate the RNase activity of the protein without altering its DNA-dependent function.
MOLECULAR AND CELLULAR BIOCHEMISTRY
(2023)
Article
Multidisciplinary Sciences
Ke Zhang, Yang Sui, Wu-Long Li, Gen Chen, Xue-Chang Wu, Robert J. Kokoska, Thomas D. Petes, Dao-Qiong Zheng
Summary: The deficiency of Pol epsilon leads to genomic instability and multiple human diseases. Low levels of Pol epsilon result in cellular changes such as elevated rates of recombination, aneuploidy, contraction of ribosomal DNA repeats, shortened telomeres, increased break-induced replication, and higher rate of single-base mutations. Compared to other replicative DNA polymerases, Pol epsilon displays distinct patterns of genomic alterations.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Review
Cell Biology
Jessica Honorato Ribeiro, Nazlican Altinisik, Nicholas Rajan, Mieke Verslegers, Sarah Baatout, Jay Gopalakrishnan, Roel Quintens
Summary: DNA-damaging agents and endogenous DNA damage continuously threaten genome integrity. The DNA damage response (DDR) mechanisms play a crucial role in repairing lesions and preventing mutations, especially in brain development. Defects in DNA repair pathways can lead to neurological disorders such as microcephaly. Genetic mutations, exposure to ionizing radiation, and intrauterine infections can cause microcephaly by impairing DNA repair pathways. This review discusses the importance of DDR in normal brain development and the mechanisms and exposures that can result in microcephaly.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Article
Gastroenterology & Hepatology
Nitzan C. Roth, Angela Kim, Taisia Vitkovski, Jianxiang Xia, Guillermo Ramirez, David Bernstein, James M. Crawford
Summary: This study discusses three cases of patients recovering from critical cardiopulmonary COVID-19 who developed prolonged and severe cholestasis, with histologic features similar to secondary sclerosing cholangitis but also unique characteristics indicating direct hepatic injury from COVID-19. These cases suggest a novel severe post-COVID-19 cholangiopathy with potential for long-term hepatic morbidity.
AMERICAN JOURNAL OF GASTROENTEROLOGY
(2021)
Article
Genetics & Heredity
Agnieszka Halas, Jolanta Fijak-Moskal, Renata Kuberska, Victor Murcia Pienkowski, Aneta Kaniak-Golik, Agnieszka Pollak, Jaroslaw Poznanski, Malgorzata Rydzanicz, Miroslaw Bik-Multanowski, Ewa Sledziewska-Gojska, Rafal Ploski
Summary: This study reported a rare homozygous REV3L variant identified in a child with developmental delay, severe hypotrophy, and dysmorphic features. Functional analysis in yeast showed that the variant affected the enzymatic function of the protein, leading to increased UV sensitivity and abnormal mutagenesis rates.
JOURNAL OF MOLECULAR MEDICINE-JMM
(2021)
Article
Medicine, Research & Experimental
Sung Yeon Ham, Ji Hae Jun, Hye-Bin Kim, Jae-Kwang Shim, Gisong Lee, Young-Lan Kwak
Summary: This study investigated the activities of key regulators affecting erythropoiesis in a rat model of iron deficiency anemia with inflammation. The results showed that IV iron therapy exacerbated inflammation and oxidative stress and did not resolve anemia.
Article
Cell & Tissue Engineering
Lauren Kokai, Joseph Chen, Dong Wang, Sheri Wang, Francesco M. Egro, Benjamin Schilling, Hengyun Sun, Asim Ejaz, J. Peter Rubin, Jeffrey A. Gusenoff, Nam Vo, Kentaro Onishi, Gwendolyn Sowa
Summary: This study compares the effects of different adipose preparations on knee chondrocytes and suggests that mechanically processed preparations may be more effective for knee osteoarthritis treatment.
STEM CELLS AND DEVELOPMENT
(2022)
Article
Medicine, General & Internal
Kevin Roth, Louis Coussement, Elena V. Knatko, Maureen Higgins, Sandra Steyaert, Charlotte M. Proby, Tim de Meyer, Albena T. Dinkova-Kostova
Summary: The study found increased average methylation levels in mouse cSCC, especially in stem-cell like human cSCC. There were striking similarities in differentially methylated genes between mouse and human cSCC, with locus specific methylation changes occurring in potential regulatory regions. Dysregulation of DNA methylation, particularly in the Filip1l gene, appears to contribute to the silencing of tumor suppressor genes in both murine and human cSCC.
Article
Allergy
Yu Yu Han, Xin Zhang, Ji Wang, Gang Wang, Brian G. Oliver, Hong Ping Zhang, De Ying Kang, Lei Wang, Zhi Xin Qiu, Wei Min Li
Summary: Research revealed that phenotype overlap is common in asthmatic patients, and phenotypes associated with mixed T2 and non-T2 inflammation may lead to medication insensitivity.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE
(2021)
Article
Anatomy & Morphology
Ryan J. Palumbo, Alana E. Belkevich, Haleigh G. Pascual, Bruce A. Knutson
Summary: Studying a missense mutation and RNAi knockdown of POLR1D in Drosophila revealed effects on larval development including reduced rRNA levels, slowed growth, and developmental arrest. The mutations also impacted the ability of POLR1D to heterodimerize with other subunits. POLR1D was found to be crucial for early development of Drosophila neural cells and possibly other cell types.
DEVELOPMENTAL DYNAMICS
(2022)
Article
Endocrinology & Metabolism
Charlotte Ling
Summary: Data suggests that epigenetic modifications and mechanisms play a significant role in the pathogenesis of type 2 diabetes. However, the role of pharmacoepigenetics in type 2 diabetes is not well-established. Blood-based epigenetic biomarkers may be useful in distinguishing responders from non-responders to glucose-lowering therapies. Furthermore, there is a need for further research on whether existing therapies exert their effects through therapy-induced epigenetic alterations. Finally, epigenetic enzymes may be potential drug targets for type 2 diabetes.
Article
Surgery
Jay A. Graham, Julia Torabi, Maria Ajaimy, Enver Akalin, Luz E. Liriano, Yorg Azzi, Cindy Pynadath, Stuart M. Greenstein, Doctor Y. Goldstein, Amy S. Fox, Jeffery M. Weiss, Tia P. Powell, John F. Reinus, Milan M. Kinkhabwala, Juan P. Rocca
CLINICAL TRANSPLANTATION
(2020)
Letter
Medicine, General & Internal
Enver Akalin, Yorg Azzi, Rachel Bartash, Harish Seethamraju, Michael Parides, Vagish Hemmige, Michael Ross, Stefanie Forest, Yitz D. Goldstein, Maria Ajaimy, Luz Liriano-Ward, Cindy Pynadath, Pablo Loarte-Campos, Purna B. Nandigam, Jay Graham, Marie Le, Juan Rocca, Milan Kinkhabwala
NEW ENGLAND JOURNAL OF MEDICINE
(2020)
Article
Microbiology
Wendy A. Szymczak, D. Yitzchak Goldstein, Erika P. Orner, Roger A. Fecher, Raquel T. Yokoda, Karin A. Skalina, Momka Narlieva, Inessa Gendlina, Amy S. Fox
JOURNAL OF CLINICAL MICROBIOLOGY
(2020)
Article
Microbiology
Jimmykim Pham, Sarah Meyer, Catherine Nguyen, Analee Williams, Melissa Hunsicker, Ian McHardy, Inessa Gendlina, D. Yitzchak Goldstein, Amy S. Fox, Angela Hudson, Paul Darby, Paul Hovey, Jose Morales, James Mitchell, Karen Harrington, Mehrdad Majlessi, Joshua Moberly, Ankur Shah, Andrew Worlock, Marion Walcher, Barbara Eaton, Damon Getman, Craig Clark
JOURNAL OF CLINICAL MICROBIOLOGY
(2020)
Article
Immunology
Julia Torabi, Juan P. Rocca, Maria Ajaimy, Jeffrey Melvin, Alesa Campbell, Enver Akalin, Luz E. Liriano, Yorg Azzi, Cindy Pynadath, Stuart M. Greenstein, Marie Le, Doctor Y. Goldstein, Amy S. Fox, Jin Carrero, Jeffrey M. Weiss, Tia Powell, Andrew D. Racine, John F. Reinus, Milan M. Kinkhabwala, Jay A. Graham
Summary: The use of DAAs for D+/R- kidney transplant recipients may be influenced by prescription coverage plans managed by commercial or government PBMs. Patients with government PBMs were treated earlier, while those with commercial PBMs may experience higher peak viral loads and longer time to HCV viral load clearance.
TRANSPLANT INFECTIOUS DISEASE
(2021)
Article
Multidisciplinary Sciences
Jui Choudhuri, Jamal Carter, Randin Nelson, Karin Skalina, Marika Osterbur-Badhey, Andrew Johnston, Doctor Goldstein, Monika Paroder, James Szymanski
Article
Health Care Sciences & Services
Kenji Ikemura, Eran Bellin, Yukako Yagi, Henny Billett, Mahmoud Saada, Katelyn Simone, Lindsay Stahl, James Szymanski, D. Y. Goldstein, Morayma Reyes Gil
Summary: In this study, autoML was used to develop high-performing models that predicted the survival of patients with COVID-19. By identifying important variables correlated with mortality, it was demonstrated that autoML is an efficient, effective, and informative method for generating machine learning-based clinical decision support tools.
JOURNAL OF MEDICAL INTERNET RESEARCH
(2021)
Article
Medicine, Research & Experimental
Carl A. Pierce, Sharlene Sy, Benjamin Galen, Doctor Y. Goldstein, Erika Orner, Marla Keller, Kevan C. Herold, Betsy Herold
Summary: Children infected with SARS-CoV-2 show a more robust early mucosal immune response compared to adults, which may contribute to favorable clinical outcomes. Higher levels of IFN signaling and other innate pathways were observed in children, along with increased levels of certain cytokines in nasal fluid, suggesting a more protective immune response in children against severe COVID-19.
Article
Medical Laboratory Technology
Sebastian A. Jofre, Maxwell Roth, Arash H. Lahouti, Adam Gersten, Abul Kalam Azad, Robert D. Kelsch, Saeed Asiry, Yitzchak Goldstein, Rizwan Naeem, Rema Rao
Summary: This case report describes the cytologic features of an ameloblastoma in a 70-year-old female patient. Fine-needle aspiration (FNA) biopsy was performed to sample a maxillary sinus soft tissue mass, and the cytologic findings were presented. Awareness of the cytologic features of ameloblastomas is crucial for cytopathologists confronted with maxillary sinus lesions.
DIAGNOSTIC CYTOPATHOLOGY
(2022)
Article
Infectious Diseases
Melissa E. Menezes, Ellen J. Silver, D. Yitzchak Goldstein, Michelle D. Collins-Ogle, Amy S. Fox, Susan M. Coupey
Summary: The prevalence of M. genitalium infection in females aged <21 years is comparable to chlamydia, indicating the need for testing and treatment in symptomatic individuals.
SEXUALLY TRANSMITTED DISEASES
(2023)
Article
Pathology
Kritika Krishnamurthy, Jiani Chai, Yanhua Wang, Rizwan Naeem, D. Yitzchak Goldstein
Summary: This study revealed the coexistence of JAK2 p.V617F and CALR exon 9 variants in BCR::ABL1 negative myeloproliferative neoplasms using PCR and gene sequencing methods. These cases highlight the importance of understanding the limitations of molecular techniques in current practice.
AMERICAN JOURNAL OF CLINICAL PATHOLOGY
(2023)
Article
Pathology
Karin A. Skalina, D. Y. Goldstein, Jaffar Sulail, Eunkyu Hahm, Momka Narlieva, Wendy Szymczak, Amy S. Fox
Summary: This study demonstrates the long-term stability of nasopharyngeal swab specimens for SARS-CoV-2 molecular testing, even after 21 days of refrigeration or ambient storage. These findings are important for increasing testing capacity during the global COVID-19 outbreak.
JOURNAL OF CLINICAL PATHOLOGY
(2022)
Article
Pathology
Sean T. Campbell, Erika P. Orner, Morayma Reyes Gil, Amy S. Fox, D. Yitzchak Goldstein, Lucia R. Wolgast, Evan M. Cadoff, Victoria H. Freedman, Myles H. Akabas, Michael B. Prystowsky, Wendy A. Szymczak
Summary: In February 2020, New York City was unprepared for the COVID-19 pandemic, leading to rapid spread of SARS-CoV-2 infections. The Montefiore Medical System had to quickly scale up testing and engage volunteer senior MD-PhD students to help establish a Pathology Command Center. Lessons were learned on how to restructure departments, onboard students and repurpose staff during the unprecedented times.
ACADEMIC PATHOLOGY
(2021)
Article
Pathology
Preeti Malik, Saeed Asiry, D. Yitzchak Goldstein, Samer N. Khader
Summary: This fictional case serves as a learning tool for Pathology Competencies for Medical Education (PCME), covering Disease Mechanisms and Processes, Organ System Pathology, and Diagnostic Medicine and Therapeutic Pathology. For more details and learning objectives, refer to the provided link.
ACADEMIC PATHOLOGY
(2021)
Article
Oncology
Astha Thakkar, Kith Pradhan, Shawn Jindal, Zhu Cui, Bradley Rockwell, Akash Pradip Shah, Stuart Packer, R. Alejandro Sica, Joseph Sparano, D. Yitzhak Goldstein, Amit Verma, Sanjay Goel, Balazs Halmos
Summary: The study found differential rates of SARS-CoV-2 IgG seroconversion in cancer patients based on specific cancer types and therapy modalities. Patients with hematological malignancies, those receiving anti-CD-20 antibody therapy, and stem cell transplant patients had significantly lower seroconversion rates, while patients receiving immunotherapy, especially anti-PD-1/PD-L1 monoclonal antibodies, showed 100% seroconversion rates. These findings have implications for clinical monitoring and vaccination strategies to combat the COVID-19 pandemic.