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  • Feature Paper
  • Review
  • Open Access
16 Citations
8,306 Views
33 Pages

2 August 2019

Accurate division of cells into two daughters is a process that is vital to propagation of life. Protein phosphorylation and selective degradation have emerged as two important mechanisms safeguarding the delicate choreography of mitosis. Protein pho...

  • Review
  • Open Access
3 Citations
3,504 Views
12 Pages

Research on the budding yeast Saccharomyces cerevisiae has yielded fundamental discoveries on highly conserved biological pathways and yeast remains the best-studied eukaryotic cell in the world. Studies on the mitotic cell cycle and the discovery of...

  • Review
  • Open Access
1,389 Views
12 Pages

Tick-Tock: Cancer Cell Division Cycle Clocks Strike Midnight

  • Scott C. Schuyler,
  • Hsin-Yu Chen,
  • Tran Thi Bao Nguyen,
  • Cheng-Ye Weng,
  • Katelyn Huang and
  • Yun-Chen Renee Lin

Eukaryotic cells double their mass and divide at the same rate, allowing cells to maintain a uniform cell size over many cell divisions. We hypothesize that aneuploid cancer cells are more sensitive to forced overgrowth, more than doubling their mass...

  • Review
  • Open Access
5 Citations
4,256 Views
31 Pages

Ubiquitin Proteasome Gene Signatures in Ependymoma Molecular Subtypes

  • Jerry Vriend,
  • Thatchawan Thanasupawat,
  • Namita Sinha and
  • Thomas Klonisch

15 October 2022

The ubiquitin proteasome system (UPS) is critically important for cellular homeostasis and affects virtually all key functions in normal and neoplastic cells. Currently, a comprehensive review of the role of the UPS in ependymoma (EPN) brain tumors i...

  • Article
  • Open Access
2,130 Views
13 Pages

14 February 2025

Delaying mitotic cell cycle progression has been proposed as a strategy to potentiate the effects of anti-mitotic anti-cancer drugs that induce multipolar mitotic spindles. Toward this end, we have performed an in silico docking screen targeting anap...

  • Review
  • Open Access
6 Citations
3,451 Views
13 Pages

Paclitaxel induces multipolar spindles at clinically relevant doses but does not substantially increase mitotic indices. Paclitaxel’s anti-cancer effects are hypothesized to occur by promoting chromosome mis-segregation on multipolar spindles l...

  • Article
  • Open Access
3 Citations
2,505 Views
21 Pages

Targeting APC/C Ubiquitin E3-Ligase Activation with Pyrimidinethylcarbamate Apcin Analogues for the Treatment of Breast Cancer

  • Maria Kapanidou,
  • Natalie L. Curtis,
  • Sandra S. Diaz-Minguez,
  • Sandra Agudo-Alvarez,
  • Alfredo Rus Sanchez,
  • Ammar Mayah,
  • Rosette Agena,
  • Paul Brennan,
  • Paula Morales and
  • Victor M. Bolanos-Garcia
  • + 2 authors

12 November 2024

Activation of the ubiquitin ligase APC/C by the protein Cdc20 is an essential requirement for proper cell division in higher organisms, including humans. APC/C is the ultimate effector of the Spindle Assembly Checkpoint (SAC), the signalling system t...

  • Review
  • Open Access
19 Citations
6,540 Views
16 Pages

Cell Cycle Regulation by Heat Shock Transcription Factors

  • Yasuko Tokunaga,
  • Ken-Ichiro Otsuyama and
  • Naoki Hayashida

8 January 2022

Cell division and cell cycle mechanism has been studied for 70 years. This research has revealed that the cell cycle is regulated by many factors, including cyclins and cyclin-dependent kinases (CDKs). Heat shock transcription factors (HSFs) have bee...

  • Article
  • Open Access
5 Citations
3,520 Views
10 Pages

23 October 2020

Forespore membrane (FSM) closure is a process of specialized cytokinesis in yeast meiosis. FSM closure begins with the contraction of the FSM opening and finishes with the disassembly of the leading-edge proteins (LEPs) from the FSM opening. Here, we...

  • Review
  • Open Access
27 Citations
9,209 Views
14 Pages

The E3 ubiquitin ligase Anaphase Promoting Complex/Cyclosome (APC/C) regulates important processes in cells, such as the cell cycle, by targeting a set of substrates for degradation. In the last decade, APC/C has been related to several major functio...

  • Review
  • Open Access
5 Citations
4,011 Views
15 Pages

The Anaphase-Promoting Complex/Cyclosome Is a Cellular Ageing Regulator

  • Xiangdong Hu,
  • Xuejiao Jin,
  • Xiuling Cao and
  • Beidong Liu

5 December 2022

The anaphase-promoting complex/cyclosome (APC/C) is a complicated cellular component that plays significant roles in regulating the cell cycle process of eukaryotic organisms. The spatiotemporal regulation mechanisms of APC/C in distinct cell cycle t...

  • Article
  • Open Access
3 Citations
1,938 Views
25 Pages

Differential Expression of ARG1 and MRC2 in Retinal Müller Glial Cells During Autoimmune Uveitis

  • Amelie B. Fleischer,
  • Barbara Amann,
  • Christine von Toerne,
  • Roxane L. Degroote,
  • Adrian Schmalen,
  • Tanja Weißer,
  • Stefanie M. Hauck and
  • Cornelia A. Deeg

14 February 2025

Retinal Müller glial cells (RMG) play a crucial role in retinal neuroinflammation, including autoimmune uveitis. Increasing evidence supports their function as active modulators of immune responses and potential atypical antigen-presenting cells...

  • Article
  • Open Access
8 Citations
4,168 Views
19 Pages

ProTAME Arrest in Mammalian Oocytes and Embryos Does Not Require Spindle Assembly Checkpoint Activity

  • Lenka Radonova,
  • Tereza Svobodova,
  • Michal Skultety,
  • Ondrej Mrkva,
  • Lenka Libichova,
  • Paula Stein and
  • Martin Anger

13 September 2019

In both mitosis and meiosis, metaphase to anaphase transition requires the activity of a ubiquitin ligase known as anaphase promoting complex/cyclosome (APC/C). The activation of APC/C in metaphase is under the control of the checkpoint mechanism, ca...

  • Article
  • Open Access
3 Citations
3,100 Views
20 Pages

30 September 2022

Cancer development is regulated by inflammation. Staufen1 (STAU1) is an RNA-binding protein whose expression level is critical in cancer cells as it is related to cell proliferation or cell death. STAU1 protein levels are downregulated during mitosis...

  • Article
  • Open Access
13 Citations
7,695 Views
18 Pages

21 October 2014

To guarantee genomic integrity and viability, the cell must ensure proper distribution of the replicated chromosomes among the two daughter cells in mitosis. The mitotic spindle assembly checkpoint (SAC) is a central regulatory mechanism to achieve t...

  • Feature Paper
  • Article
  • Open Access
1 Citations
3,401 Views
17 Pages

The N-Terminal Region of the Polo Kinase Cdc5 Is Required for Downregulation of the Meiotic Recombination Checkpoint

  • Sara González-Arranz,
  • Isabel Acosta,
  • Jesús A. Carballo,
  • Beatriz Santos and
  • Pedro A. San-Segundo

27 September 2021

During meiosis, the budding yeast polo-like kinase Cdc5 is a crucial driver of the prophase I to meiosis I (G2/M) transition. The meiotic recombination checkpoint restrains cell cycle progression in response to defective recombination to ensure prope...

  • Article
  • Open Access
1 Citations
2,730 Views
16 Pages

The APC/C Activator Cdh1p Plays a Role in Mitochondrial Metabolic Remodelling in Yeast

  • Ana Cláudia Leite,
  • Maria Barbedo,
  • Vítor Costa and
  • Clara Pereira

18 February 2023

Cdh1p is one of the two substrate adaptor proteins of the anaphase promoting complex/cyclosome (APC/C), a ubiquitin ligase that regulates proteolysis during cell cycle. In this work, using a proteomic approach, we found 135 mitochondrial proteins who...

  • Article
  • Open Access
2 Citations
2,030 Views
18 Pages

Gene Expression Analysis of Yeast Strains with a Nonsense Mutation in the eRF3-Coding Gene Highlights Possible Mechanisms of Adaptation

  • Evgeniia M. Maksiutenko,
  • Yury A. Barbitoff,
  • Lavrentii G. Danilov,
  • Andrew G. Matveenko,
  • Olga M. Zemlyanko,
  • Elena P. Efremova,
  • Svetlana E. Moskalenko and
  • Galina A. Zhouravleva

In yeast Saccharomyces cerevisiae, there are two translation termination factors, eRF1 (Sup45) and eRF3 (Sup35), which are essential for viability. Previous studies have revealed that presence of nonsense mutations in these genes leads to amplificati...

  • Article
  • Open Access
6 Citations
5,331 Views
11 Pages

5-Phospho-d-ribosyl-1-diphosphate (PRPP) synthase (PRS) catalyzes the biosynthesis of PRPP, which is an important compound of metabolism in most organisms. However, no PRS genes have been cloned, let alone studied for their biological function in rub...

  • Review
  • Open Access
3 Citations
4,628 Views
19 Pages

6 February 2024

In the budding yeast Saccharomyces cerevisiae, sporulation occurs during starvation of a diploid cell and results in the formation of four haploid spores forming within the mother cell ascus. Meiosis divides the genetic material that is encapsulated...

  • Review
  • Open Access
19 Citations
5,975 Views
15 Pages

The Role of Apoptin in Chicken Anemia Virus Replication

  • Cynthia Feng,
  • Yingke Liang and
  • Jose G. Teodoro

Apoptin is the Vp3 protein of chicken anemia virus (CAV), which infects the thymocytes and erythroblasts in young chickens, causing chicken infectious anemia and immunosuppression. Apoptin is highly studied for its ability to selectively induce apopt...

  • Article
  • Open Access
7 Citations
2,898 Views
17 Pages

Molecular Regulation of Porcine Skeletal Muscle Development: Insights from Research on CDC23 Expression and Function

  • Su Xie,
  • Quan Liu,
  • Chong Fu,
  • Yansen Chen,
  • Mengxun Li,
  • Cheng Tian,
  • Jiaxuan Li,
  • Min Han and
  • Changchun Li

Cell division cycle 23 (CDC23) is a component of the tetratricopeptide repeat (TPR) subunit in the anaphase-promoting complex or cyclosome (APC/C) complex, which participates in the regulation of mitosis in eukaryotes. However, the regulatory model a...

  • Article
  • Open Access
13 Citations
5,486 Views
23 Pages

6 December 2018

One of the still open questions in Ewing sarcoma, a rare bone tumor with weak therapeutic options, is to identify the tumor-driving cell (sub) population and to understand the specifics in the biological network of these cells. This basic scientific...

  • Article
  • Open Access
9 Citations
3,711 Views
20 Pages

HN1 Is Enriched in the S-Phase, Phosphorylated in Mitosis, and Contributes to Cyclin B1 Degradation in Prostate Cancer Cells

  • Aadil Javed,
  • Gülseren Özduman,
  • Lokman Varışlı,
  • Bilge Esin Öztürk and
  • Kemal Sami Korkmaz

26 January 2023

HN1 has previously been shown as overexpressed in various cancers. In Prostate cancer, it regulates AR signaling and centrosome-related functions. Previously, in two different studies, HN1 expression has been observed as inversely correlated with Cyc...

  • Review
  • Open Access
501 Views
24 Pages

8 January 2026

Time delays are intrinsic to mitotic regulation, particularly within the spindle assembly checkpoint (SAC) and the spindle position checkpoint (SPOC). These delays emerge from multi-step protein activation, molecular transport, force-dependent confor...

  • Article
  • Open Access
3,291 Views
27 Pages

Transcriptional and Post-Translational Regulation of Junctional Adhesion Molecule-B (JAM-B) in Leukocytes under Inflammatory Stimuli

  • Priscilla E. Day-Walsh,
  • Bryony Keeble,
  • Gothai Pirabagar,
  • Samuel J. Fountain and
  • Paul A. Kroon

Junctional adhesion molecules (JAMs; comprising JAM-A, -B and -C) act as receptors for viruses, mediate cell permeability, facilitate leukocyte migration during sterile and non-sterile inflammation and are important for the maintenance of epithelial...

  • Article
  • Open Access
1 Citations
1,440 Views
26 Pages

21 October 2024

Coded computing is recognized as a promising solution to address the privacy leakage problem and the straggling effect in distributed computing. This technique leverages coding theory to recover computation tasks using results from a subset of worker...

  • Article
  • Open Access
7 Citations
5,350 Views
12 Pages

Rare Genetic Variants in Human APC Are Implicated in Mesiodens and Isolated Supernumerary Teeth

  • Chomchanok Panyarat,
  • Siriruk Nakornchai,
  • Kanoknart Chintakanon,
  • Niramol Leelaadisorn,
  • Worrachet Intachai,
  • Bjorn Olsen,
  • Sissades Tongsima,
  • Ploy Adisornkanj,
  • Chumpol Ngamphiw and
  • Piranit Kantaputra
  • + 1 author

21 February 2023

The activation of Wnt/β-catenin signalling is a prerequisite for odontogenesis. APC, a member of the AXIN-CK1-GSK3β-APC β-catenin destruction complex, functions to modulate Wnt/β-catenin signalling to establish regular teeth numbe...

  • Article
  • Open Access
5 Citations
3,133 Views
17 Pages

Artepillin C Time−Dependently Alleviates Metabolic Syndrome in Obese Mice by Regulating CREB/CRTC2−BMAL1 Signaling

  • Lei Wang,
  • Lingqin Zhou,
  • Shuai Liu,
  • Yaxin Liu,
  • Jia Zhao,
  • Yaqiong Chen and
  • Yi Liu

28 March 2023

Artepillin C (APC), a cAMP-response element−binding (CREB)/CREB regulated transcription coactivator 2 (CRTC2) inhibitor isolated from Brazilian green propolis, can ameliorate metabolic syndrome in obese mice. Because the sensitivity and respons...

  • Review
  • Open Access
20 Citations
6,858 Views
20 Pages

Activated Protein C in Cutaneous Wound Healing: From Bench to Bedside

  • Ruilong Zhao,
  • Haiyan Lin,
  • Lara Bereza-Malcolm,
  • Elizabeth Clarke,
  • Christopher John Jackson and
  • Meilang Xue

19 February 2019

Independent of its well-known anticoagulation effects, activated protein C (APC) exhibits pleiotropic cytoprotective properties. These include anti-inflammatory actions, anti-apoptosis, and endothelial and epithelial barrier stabilisation. Such benef...

  • Article
  • Open Access
5 Citations
2,893 Views
17 Pages

The Secret Life of the Inhibitor of Virus Replication

  • Peter Palukaitis,
  • Masoud Akbarimotlagh,
  • Eseul Baek and
  • Ju-Yeon Yoon

14 December 2022

The inhibitor of virus replication (IVR) is an inducible protein that is not virus-target-specific and can be induced by several viruses. The GenBank was interrogated for sequences closely related to the tobacco IVR. Various RNA fragments from tobacc...

  • Article
  • Open Access
5 Citations
2,576 Views
12 Pages

Conventional and Pro-Inflammatory Pathways of Fibrinolytic Activation in Non-Traumatic Hyperfibrinolysis

  • Johannes Zipperle,
  • Bernhard Ziegler,
  • Herbert Schöchl,
  • Wolfgang Voelckel,
  • Peter Dungel,
  • Janne Cadamuro,
  • Marcin Osuchowski,
  • Christoph J. Schlimp and
  • Daniel Oberladstätter

9 December 2022

Hyperfibrinolysis (HF) frequently occurs after severe systemic hypoperfusion during major trauma and out-of-hospital cardiac arrest (OHCA). In trauma-induced HF, hypoperfusion, the activation of protein C (APC), and the release of tissue plasminogen...

  • Article
  • Open Access
11 Citations
3,602 Views
15 Pages

In insects, adipokinetic hormone is the primary hormone responsible for the mobilization of stored energy. While a growing body of evidence has solidified the role of adipokinetic hormone (AKH) in modulating the physiological and behavioral responses...

  • Article
  • Open Access
4 Citations
1,969 Views
12 Pages

Decreased Protein C Pathway Activity in COVID-19 Compared to Non-COVID Sepsis: An Observational and Comparative Cohort Study

  • Heiko Rühl,
  • Christian Bode,
  • Tobias Becher,
  • Sebastian Eckert,
  • Ghaith Mohsen,
  • Hannah L. McRae,
  • Jens Müller,
  • Sara Reda,
  • Dirk Loßnitzer and
  • Bernd Pötzsch
  • + 2 authors

Sepsis-associated coagulopathy increases risk of mortality. Impairment of the anticoagulant protein C (PC) pathway may contribute to the thrombotic phenotype in coronavirus disease 2019 (COVID-19) sepsis. This study assessed the functionality of this...

  • Article
  • Open Access
3 Citations
1,610 Views
15 Pages

Assessment of Hypercoagulability in Splanchnic Vein Thrombosis by Measurement of the Hemostasis Enzymes Thrombin and Activated Protein C

  • Sara Reda,
  • Johannes Chang,
  • Johanna Busse,
  • Nadine Schwarz,
  • Hannah L. McRae,
  • Jens Müller,
  • Christian P. Strassburg,
  • Johannes Oldenburg,
  • Bernd Pötzsch and
  • Heiko Rühl
  • + 1 author

31 December 2024

Splanchnic vein thrombosis (SVT), which is particularly prevalent in myeloproliferative neoplasms (MPNs), has a multifactorial pathomechanism involving the anticoagulant protein C (PC) pathway. To better characterize the hypercoagulable state in SVT...

  • Article
  • Open Access
4 Citations
4,049 Views
17 Pages

E3 Ubiquitin Ligase APC/CCdh1 Negatively Regulates FAH Protein Stability by Promoting Its Polyubiquitination

  • Kamini Kaushal,
  • Sang Hyeon Woo,
  • Apoorvi Tyagi,
  • Dong Ha Kim,
  • Bharathi Suresh,
  • Kye-Seong Kim and
  • Suresh Ramakrishna

18 November 2020

Fumarylacetoacetate hydrolase (FAH) is the last enzyme in the degradation pathway of the amino acids tyrosine and phenylalanine in mammals that catalyzes the hydrolysis of 4-fumarylacetoacetate into acetoacetate and fumarate. Mutations of the FAH gen...

  • Article
  • Open Access
27 Citations
4,876 Views
19 Pages

Modulating PKCα Activity to Target Wnt/β-Catenin Signaling in Colon Cancer

  • Sébastien Dupasquier,
  • Philippe Blache,
  • Laurence Picque Lasorsa,
  • Han Zhao,
  • Jean-Daniel Abraham,
  • Jody J. Haigh,
  • Marc Ychou and
  • Corinne Prévostel

18 May 2019

Inactivating mutations of the tumor suppressor Adenomatosis Polyposis Coli (APC), which are found in familial adenomatosis polyposis and in 80% of sporadic colorectal cancers (CRC), result in constitutive activation of the Wnt/β-catenin pathway...

  • Review
  • Open Access
33 Citations
13,107 Views
39 Pages

KRAS Mutation Subtypes and Their Association with Other Driver Mutations in Oncogenic Pathways

  • Koushik Mondal,
  • Mahesh Kumar Posa,
  • Revathi P. Shenoy and
  • Susanta Roychoudhury

19 July 2024

The KRAS mutation stands out as one of the most influential oncogenic mutations, which directly regulates the hallmark features of cancer and interacts with other cancer-causing driver mutations. However, there remains a lack of precise information o...

  • Article
  • Open Access
10 Citations
5,207 Views
15 Pages

Determining the microbial quality and safety of meat is crucial because of its high potential to harbor pathogens. To address the critical knowledge gap and shed light on potential contamination risk in the meat supply chain, this study aimed to asse...

  • Article
  • Open Access
32 Citations
5,387 Views
11 Pages

25 March 2019

Plastid proteins are one of the main components in red algae. In order to clarify the angiotensin I converting enzyme (ACE) inhibitory peptides from red alga Palmaria sp. (Japan), we determined the plastid genome sequence. The genome possesses 205 pr...

  • Case Report
  • Open Access
4 Citations
4,357 Views
11 Pages

Identification of a Novel Pathogenic Rearrangement Variant of the APC Gene Associated with a Variable Spectrum of Familial Cancer

  • María Lourdes Garza-Rodríguez,
  • Víctor Treviño,
  • Antonio Alí Pérez-Maya,
  • Hazyadee Frecia Rodríguez-Gutiérrez,
  • Moisés González-Escamilla,
  • Miguel Ángel Elizondo-Riojas,
  • Genaro A. Ramírez-Correa,
  • Oscar Vidal-Gutiérrez,
  • Carlos Horacio Burciaga-Flores and
  • Diana Cristina Pérez-Ibave

28 February 2021

Familial adenomatous polyposis (FAP) is an autosomal-dominant condition characterized by the presence of multiple colorectal adenomas, caused by germline variants in the adenomatous polyposis coli (APC) gene. More than 300 germline variants have been...

  • Article
  • Open Access
1 Citations
2,538 Views
22 Pages

10 February 2025

Five species of Alexandrium (A. affine, A. fraterculus, A. leei, A. pseudogonyaulax, and A. tamiyavanichii) are commonly found in Vietnamese waters. They were distinguished based on their apical pore complex (A.P.C), precingular first plate (1′...

  • Article
  • Open Access
975 Views
16 Pages

A Plot Twist: When RNA Yields Unexpected Findings in Paired DNA-RNA Germline Genetic Testing

  • Heather Zimmermann,
  • Terra Brannan,
  • Colin Young,
  • Jesus Ramirez Castano,
  • Carolyn Horton,
  • Alexandra Richardson,
  • Bhuvan Molparia and
  • Marcy E. Richardson

13 November 2025

Background: Germline genetic variants impacting splicing are a frequent cause of disease. The clinical interpretation of such variants is challenging for many reasons including the immense complexity of splicing mechanisms. While recent advances in s...

  • Article
  • Open Access
14 Citations
5,474 Views
18 Pages

E3 Ubiquitin Ligase APC/CCdh1 Regulation of Phenylalanine Hydroxylase Stability and Function

  • Apoorvi Tyagi,
  • Neha Sarodaya,
  • Kamini Kaushal,
  • Arun Pandian Chandrasekaran,
  • Ainsley Mike Antao,
  • Bharathi Suresh,
  • Byung Ho Rhie,
  • Kye Seong Kim and
  • Suresh Ramakrishna

28 November 2020

Phenylketonuria (PKU) is an autosomal recessive metabolic disorder caused by the dysfunction of the enzyme phenylalanine hydroxylase (PAH). Alterations in the level of PAH leads to the toxic accumulation of phenylalanine in the blood and brain. Prote...

  • Article
  • Open Access
1 Citations
3,016 Views
16 Pages

At present, direct carbon fuel cells constitute an emerging energy technology that electrochemically converts solid carbon to electricity with high efficiency. The recent trend of DCFCs fueled with biochar from biomass carbonization as green fuel has...

  • Article
  • Open Access
25 Citations
5,717 Views
51 Pages

4 December 2022

Complex pathological diseases, such as cancer, infection, and Alzheimer’s, need to be targeted by multipronged curative. Various omics technologies, with a high rate of data generation, demand artificial intelligence to translate these data int...

  • Article
  • Open Access
1 Citations
1,490 Views
18 Pages

Role of the Anaphase-Promoting Complex Activator Cdh1 in the Virulence of Cryptococcus neoformans

  • Qiu-Hong Liao,
  • Lian-Tao Han,
  • Meng-Ru Guo,
  • Cheng-Li Fan and
  • Tong-Bao Liu

23 December 2024

Cryptococcus neoformans is a globally distributed human fungal pathogen that can cause cryptococcal meningitis with high morbidity and mortality. In this study, we identified an anaphase-promoting complex (APC) activator, Cdh1, and examined its impac...

  • Brief Report
  • Open Access
4 Citations
3,845 Views
13 Pages

A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome

  • Magdalena Skalníková,
  • Kateřina Staňo Kozubík,
  • Jakub Trizuljak,
  • Zuzana Vrzalová,
  • Lenka Radová,
  • Kamila Réblová,
  • Radka Holbová,
  • Terézia Kurucová,
  • Hana Svozilová and
  • Michael Doubek
  • + 9 authors

Bernard-Soulier syndrome (BSS) is a rare inherited disorder characterized by unusually large platelets, low platelet count, and prolonged bleeding time. BSS is usually inherited in an autosomal recessive (AR) mode of inheritance due to a deficiency o...

  • Article
  • Open Access
170 Citations
17,416 Views
21 Pages

29 December 2014

Cyanobacteria have evolved a number of acclimation strategies to sense and respond to changing nutrient and light conditions. Leptolyngbya sp. JSC-1 was recently shown to photoacclimate to far-red light by extensively remodeling its photosystem (PS)...

  • Case Report
  • Open Access
1 Citations
2,635 Views
10 Pages

Biallelic PMS2 Mutations in a Family with Uncommon Clinical and Molecular Features

  • Monica Pedroni,
  • Maurizio Ponz de Leon,
  • Luca Reggiani Bonetti,
  • Giuseppina Rossi,
  • Alessandra Viel,
  • Emanuele Damiano Luca Urso and
  • Luca Roncucci

26 October 2022

We describe a patient with constitutional mismatch repair-deficiency (CMMR-D) in whom the syndrome started at age 10 with the development of multiple adenomas in the large bowel. In the successive 25 years, four malignancies developed in different or...

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