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  • Communication
  • Open Access
7 Citations
4,038 Views
13 Pages

24 October 2023

The peak of the coronavirus-19 (COVID-19) in New York City significantly impacted communities that lived in the New York City Housing Authority (NYCHA). However, these same communities have been historically reported to test positive for lead poisoni...

  • Review
  • Open Access
1 Citations
3,596 Views
15 Pages

17 February 2026

Antiphospholipid syndrome (APS), first described in 1983, is a systemic autoimmune disorder characterized by recurrent arterial and venous thrombosis, pregnancy complications, and persistent antiphospholipid antibodies (aPL). Over four decades, signi...

(This article belongs to the Section Cellular Immunology)
  • Article
  • Open Access
22 Citations
6,715 Views
26 Pages

Role of Polyinosinic:Polycytidylic Acid-Induced Maternal Immune Activation and Subsequent Immune Challenge in the Behaviour and Microglial Cell Trajectory in Adult Offspring: A Study of the Neurodevelopmental Model of Schizophrenia

  • Katarzyna Chamera,
  • Ewa Trojan,
  • Katarzyna Kotarska,
  • Magdalena Szuster-Głuszczak and ,
  • Natalia Bryniarska,
  • Kinga Tylek and
  • Agnieszka Basta-Kaim
  • + 2 authors+ 0 author

4 February 2021

Multiple lines of evidence support the pathogenic role of maternal immune activation (MIA) in the occurrence of the schizophrenia-like disturbances in offspring. While in the brain the homeostatic role of neuron-microglia protein systems is well docu...

(This article belongs to the Special Issue Neuroinflammatory Processes in Neurodegenerative Diseases)
  • Review
  • Open Access
42 Citations
18,559 Views
24 Pages

29 July 2015

Dystrophin-glycoprotein complex (DGC) is an important structural unit in skeletal muscle that connects the cytoskeleton (f-actin) of a muscle fiber to the extracellular matrix (ECM). Several muscular dystrophies, such as Duchenne muscular dystrophy,...

(This article belongs to the Special Issue Exercise and Brain Function)
  • Review
  • Open Access
30 Citations
7,629 Views
22 Pages

20 May 2023

The rising prevalence of nonalcoholic fatty liver disease (NAFLD)-related cirrhosis highlights the need for a better understanding of the molecular mechanisms responsible for driving the transition of hepatic steatosis (fatty liver; NAFL) to steatohe...

(This article belongs to the Special Issue The Molecular Mechanisms of Bile Acids in Diseases)
  • Review
  • Open Access
103 Citations
24,651 Views
19 Pages

Allostatic Load and Preterm Birth

  • David M. Olson,
  • Emily M. Severson,
  • Barbara S. E. Verstraeten,
  • Jane W. Y. Ng and ,
  • J. Keiko McCreary and
  • Gerlinde A. S. Metz
  • + 1 author+ 0 author

15 December 2015

Preterm birth is a universal health problem that is one of the largest unmet medical needs contributing to the global burden of disease. Adding to its complexity is that there are no means to predict who is at risk when pregnancy begins or when women...

(This article belongs to the Special Issue Prediction, Diagnostics and Prevention of Pregnancy Complications)
  • Article
  • Open Access
7 Citations
3,516 Views
17 Pages

27 September 2021

Microglia, the primary immunocompetent cells of the brain, are suggested to play a role in the development of drug addiction. Previous studies have identified the microglia-derived pro-inflammatory factor IL1β can promote the progression of cocaine a...

(This article belongs to the Section Mechanisms of Diseases)
  • Review
  • Open Access
301 Views
23 Pages

Priming the Brain Before Chemotherapy: Chronic Stress and HPA-Axis Dysregulation in Cancer-Related Cognitive Impairment

  • Lijo Andrews,
  • Yasmin El Khaldi,
  • Tracy George,
  • Tala Abuhamdah and
  • Nebojsa Nick Knezevic

6 October 2026

Cancer-related cognitive impairment (CRCI) is often attributed to chemotherapy, yet cognitive deficits are detectable in some patients before systemic treatment begins. This review examines a proposed two-hit framework in which cancer-related psychol...

(This article belongs to the Special Issue Chemotherapy-Associated Brain Damage—Translational Insights from Pre-Clinical and Clinical Research)
  • Concept Paper
  • Open Access
6 Citations
3,559 Views
10 Pages

Obstetric Neuropathy in Diabetic Patients: The “Double Hit Hypothesis”

  • Dieu Thao Nguyen,
  • Mohammad Hooshmand Zaferanieh,
  • Asa C. Black,
  • Kamron Reza Hamedi and ,
  • Richard L. Goodwin and
  • Thomas I. Nathaniel
  • + 1 author+ 0 author

The two-hit model has been proposed to explain the effects of diabetes on mothers who are already in a putative subclinical damaged state and then undergo neuronal damage during the delivery process. However, the anatomical and pathophysiological mec...

(This article belongs to the Special Issue Neurodegenerative Disease: From Molecular Basis to Therapy)
  • Review
  • Open Access
4 Citations
5,568 Views
20 Pages

Specific Features of Focal Cortical Dysplasia in Tuberous Sclerosis Complex

  • Ekaterina Bychkova,
  • Marina Dorofeeva,
  • Aleksandr Levov,
  • Alexey Kislyakov and ,
  • Kristina Karandasheva,
  • Vladimir Strelnikov and
  • Kirill Anoshkin
  • + 2 authors+ 0 author

Patients with tuberous sclerosis complex present with cognitive, behavioral, and psychiatric impairments, such as intellectual disabilities, autism spectrum disorders, and drug-resistant epilepsy. It has been shown that these disorders are associated...

(This article belongs to the Special Issue Neuropathology: From Molecular Mechanisms to Therapeutic Solutions)
  • Review
  • Open Access
168 Citations
14,815 Views
19 Pages

Development and Progression of Non-Alcoholic Fatty Liver Disease: The Role of Advanced Glycation End Products

  • Dinali H. Fernando,
  • Josephine M. Forbes,
  • Peter W. Angus and
  • Chandana B. Herath

11 October 2019

Non-alcoholic fatty liver disease (NAFLD) affects up to 30% of the adult population and is now a major cause of liver disease-related premature illness and deaths in the world. Treatment is largely based on lifestyle modification, which is difficult...

(This article belongs to the Special Issue Pathophysiological and Molecular Mechanisms in Non-alcoholic Fatty Liver Disease)
  • Article
  • Open Access
18 Citations
7,349 Views
16 Pages

Integrated Analysis of Germline and Tumor DNA Identifies New Candidate Genes Involved in Familial Colorectal Cancer

  • Marcos Díaz-Gay,
  • Sebastià Franch-Expósito,
  • Coral Arnau-Collell,
  • Solip Park and ,
  • Fran Supek,
  • Jenifer Muñoz,
  • Laia Bonjoch,
  • Anna Gratacós-Mulleras,
  • Paula A. Sánchez-Rojas and
  • Sergi Castellví-Bel
  • + 18 authors+ 13 authors

13 March 2019

Colorectal cancer (CRC) shows aggregation in some families but no alterations in the known hereditary CRC genes. We aimed to identify new candidate genes which are potentially involved in germline predisposition to familial CRC. An integrated analysi...

  • Article
  • Open Access
12 Citations
7,611 Views
17 Pages

16 February 2019

Reproductive ageing in women, particularly after the age of 35, is associated with an exponential increase in the proportion of chromosomally abnormal oocytes produced. Several hypotheses have attempted to explain this observation, including the &lsq...

(This article belongs to the Special Issue The Role of Telomere Biology in Aging and Human Disease)
  • Review
  • Open Access
1 Citations
3,061 Views
13 Pages

Mild Traumatic Brain Injury and Functional Amnesia: When Concussion Becomes a Gateway to Functional Cognitive Disorder

  • Ioannis Mavroudis,
  • Foivos Petridis,
  • Alin Ciobica,
  • Sotirios Papagiannopoulos and
  • Dimitrios Kazis

28 February 2026

Mild traumatic brain injury (mTBI) is typically associated with transient cognitive disturbance, particularly involving attention and new learning, with most patients demonstrating full recovery within weeks. Memory impairment in uncomplicated mTBI g...

(This article belongs to the Section Cognitive, Social and Affective Neuroscience)
  • Article
  • Open Access
22 Citations
7,445 Views
19 Pages

Interactive Effects of Perinatal BPA or DES and Adult Testosterone and Estradiol Exposure on Adult Urethral Obstruction and Bladder, Kidney, and Prostate Pathology in Male Mice

  • Julia A. Taylor,
  • Maren Bell Jones,
  • Cynthia L. Besch-Williford,
  • Ashley F. Berendzen and ,
  • William A. Ricke and
  • Frederick S. vom Saal
  • + 1 author+ 0 author

Obstructive voiding disorder (OVD) occurs during aging in men and is often, but not always, associated with increased prostate size, due to benign prostatic hyperplasia (BPH), prostatitis, or prostate cancer. Estrogens are known to impact the develop...

(This article belongs to the Special Issue Advances in the Research of Endocrine Disrupting Chemicals 2.0)
  • Case Report
  • Open Access
5 Citations
3,573 Views
10 Pages

Case Report: Genetic Alterations Associated with the Progression of Carotid Paraganglioma

  • Vladislav Pavlov,
  • Anastasiya Snezhkina,
  • Dmitry Kalinin,
  • Alexander Golovyuk and ,
  • Anastasiya Kobelyatskaya,
  • Ildar Bakhtogarimov,
  • Nadezhda Volchenko,
  • George Krasnov and
  • Anna Kudryavtseva
  • + 4 authors+ 0 author

17 December 2021

Paragangliomas (PGLs) are rare neuroendocrine tumors that can develop from any paraganglion across the body. The carotid body is the most often location of PGLs in the head and neck region. Carotid PGLs (CPGLs) are characterized by predominantly non-...

(This article belongs to the Special Issue Linking Genomic Changes with Cancer in the NGS Era)
  • Review
  • Open Access
46 Citations
26,322 Views
33 Pages

Exploring the Genetic Orchestra of Cancer: The Interplay Between Oncogenes and Tumor-Suppressor Genes

  • Sajal Raj Singh,
  • Rakesh Bhaskar,
  • Shampa Ghosh,
  • Bhuvaneshwar Yarlagadda and ,
  • Krishna Kumar Singh,
  • Prashant Verma,
  • Sonali Sengupta,
  • Mitko Mladenov,
  • Nikola Hadzi-Petrushev and
  • Dimiter Avtanski
  • + 7 authors+ 2 authors

24 March 2025

Cancer is complex because of the critical imbalance in genetic regulation as characterized by both the overexpression of oncogenes (OGs), mainly through mutations, amplifications, and translocations, and the inactivation of tumor-suppressor genes (TS...

(This article belongs to the Section Cancer Pathophysiology)
  • Article
  • Open Access
28 Citations
5,610 Views
32 Pages

12 July 2020

Early life challenges resulting from maternal immune activation (MIA) may exert persistent effects on the offspring, including the development of psychiatric disorders, such as schizophrenia. Recent evidence has suggested that the adverse effects of...

(This article belongs to the Section Cellular Immunology)
  • Article
  • Open Access
24 Citations
4,587 Views
15 Pages

The Effects of Peripubertal THC Exposure in Neurodevelopmental Rat Models of Psychopathology

  • Martina Di Bartolomeo,
  • Tibor Stark,
  • Serena Di Martino,
  • Fabio Arturo Iannotti and ,
  • Jana Ruda-Kucerova,
  • Giovanni Luca Romano,
  • Martin Kuchar,
  • Samuele Laudani,
  • Petr Palivec and
  • Vincenzo Micale
  • + 11 authors+ 6 authors

15 February 2023

Adolescent exposure to cannabinoids as a postnatal environmental insult may increase the risk of psychosis in subjects exposed to perinatal insult, as suggested by the two-hit hypothesis of schizophrenia. Here, we hypothesized that peripubertal &Delt...

(This article belongs to the Special Issue New Insight into Cannabinoid Effects 2.0)
  • Review
  • Open Access
25 Citations
40,792 Views
21 Pages

Autism Spectrum Disorder: Genetic Mechanisms and Inheritance Patterns

  • Ilaria La Monica,
  • Maria Rosaria Di Iorio,
  • Antonia Sica,
  • Francesca Rufino and ,
  • Chiara Sotira,
  • Lucio Pastore and
  • Barbara Lombardo
  • + 2 authors+ 0 author

23 April 2025

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that first develops in early childhood and is characterized by restricted interests, activities, and behaviors, as well as difficulties with social interactions and communication. ASD ar...

(This article belongs to the Section Neurogenomics)
  • Article
  • Open Access
6 Citations
3,762 Views
15 Pages

28 January 2025

Focal swellings of dendrites (“dendritic blebbing”) together with structural damage of mitochondria and the endoplasmic reticulum (ER) are morphological hallmarks of glutamate neurotoxicity, also known as excitotoxicity. These pathologica...

(This article belongs to the Section Intracellular and Plasma Membranes)
  • Review
  • Open Access
157 Views
19 Pages

27 October 2026

Diabetes mellitus (DM) affects approximately one-third of patients undergoing aortic valve intervention and is an active modifier of calcific aortic valve disease (CAVD), procedural risk and bioprosthetic durability rather than a passive comorbidity....

(This article belongs to the Special Issue The Ethnoracial Diversity of Diabetes: Insights into Epidemiology, Genetics, Disease Management, and Personalized Therapies)
  • Review
  • Open Access
2 Citations
3,313 Views
22 Pages

Advances in Fetal Repair of Spina Bifida Integrating Prenatal Surgery, Stem Cells, and Biomaterials

  • Aleksandra Evangelista,
  • Luigi Ruccolo,
  • Valeria Friuli,
  • Marco Benazzo and ,
  • Bice Conti and
  • Silvia Pisani
  • + 1 author+ 0 author

Spina bifida (SB) is a congenital malformation of the central nervous system (CNS), resulting from incomplete closure of the neural tube (NT) during early embryogenesis. Myelomeningocele (MMC), the most severe form of SB, leads to progressive neurolo...

(This article belongs to the Special Issue Advances in Fetal Medicine and Neonatology)
  • Article
  • Open Access
3 Citations
2,485 Views
16 Pages

2 June 2024

Microglia are the primary innate immune cells of the central nervous system and extensively contribute to brain homeostasis. Dysfunctional or excessive activity of microglia may be associated with several neuropsychiatric disorders, including schizop...

(This article belongs to the Section Physiology and Pathology)
  • Article
  • Open Access
4 Citations
3,795 Views
19 Pages

Insights into the Potential Impact of Quetiapine on the Microglial Trajectory and Inflammatory Response in Organotypic Cortical Cultures Derived from Rat Offspring

  • Katarzyna Chamera,
  • Katarzyna Curzytek,
  • Kinga Kamińska,
  • Ewa Trojan and ,
  • Monika Leśkiewicz,
  • Kinga Tylek,
  • Magdalena Regulska and
  • Agnieszka Basta-Kaim
  • + 3 authors+ 0 author

Atypical antipsychotics currently constitute the first-line medication for schizophrenia, with quetiapine being one of the most commonly prescribed representatives of the group. Along with its specific affinity for multiple receptors, this compound e...

(This article belongs to the Special Issue Glial Cells Function and Neuron-Glia Crosstalk in Neurological Diseases)
  • Article
  • Open Access
825 Views
17 Pages

Genetic Determinants of T-Cell Homeostasis in Critical Illness: An Exploratory Analysis of Immune Gene Variants and TREC Dynamics

  • Alesya S. Gracheva,
  • Darya A. Kashatnikova,
  • Maryam B. Khadzhieva,
  • Vladislav E. Zakharchenko and ,
  • Tatyana N. Krylova,
  • Artem N. Kuzovlev and
  • Lyubov E. Salnikova
  • + 2 authors+ 0 author

Background: Chronic critical illness (CCI) following acute brain injury involves persistent immune dysfunction, yet its genetic determinants remain unclear. We investigated whether the rate of T-cell receptor excision circle (TREC) depletion—a...

(This article belongs to the Special Issue Personalized Medicine in the ICU—2nd Edition)
  • Article
  • Open Access
44 Citations
7,111 Views
17 Pages

Drug Discovery for Chagas Disease: Impact of Different Host Cell Lines on Assay Performance and Hit Compound Selection

  • Caio Haddad Franco,
  • Laura Maria Alcântara,
  • Eric Chatelain,
  • Lucio Freitas-Junior and
  • Carolina Borsoi Moraes

Cell-based screening has become the major compound interrogation strategy in Chagas disease drug discovery. Several different cell lines have been deployed as host cells in screening assays. However, host cell characteristics and host-parasite intera...

(This article belongs to the Special Issue Drug Discovery and Development for Tropical Diseases)
  • Article
  • Open Access
36 Citations
8,125 Views
25 Pages

23 April 2012

11ß-Hydroxysteroid dehydrogenase type1 (11ßHSD1) regulates the conversion from inactive cortisone to active cortisol. Increased cortisol results in diabetes, hence quelling the activity of 11ßHSD1 has been thought of as an effective approach for the...

  • Case Report
  • Open Access
2 Citations
3,376 Views
7 Pages

Immune Complex Glomerulonephritis in a Patient with Myelodysplastic Syndrome with Ring Sideroblasts Treated with Luspatercept

  • Sigurd Delanghe,
  • Tri Q. Nguyen,
  • Dominiek Mazure,
  • Amélie Dendooven and
  • Marijn M. Speeckaert

Myelodysplastic syndromes (MDS) are a group of clonal myeloid disorders distinguished by dysplastic bone marrow and peripheral blood cells, ineffective hematopoiesis, and an increased risk of developing acute myeloid leukemia (AML). MDS with ring sid...

(This article belongs to the Special Issue Advances in the Diagnosis and Management of Kidney Diseases)
  • Article
  • Open Access
374 Views
23 Pages

Working Memory Performance During Concurrent Cycling at the First and Second Ventilatory Thresholds in Athletes

  • Zafer Bilgin,
  • Erdem Uylas,
  • Muhammed Yerlikaya,
  • Nurten Dinç and ,
  • Erkan Günay and
  • Murat Taş
  • + 1 author+ 0 author

6 October 2026

Background: How exercise intensity affects working memory during concurrent motor-cognitive tasks remains unclear. This study examined working memory during dual-task cycling at the first and second ventilatory thresholds (VT1, VT2). Methods: Eleven...

(This article belongs to the Special Issue Advances in the Relationship Among Brain, Physical Function, and Exercise Performance: 2nd Edition)
  • Article
  • Open Access
9 Citations
7,706 Views
16 Pages

29 January 2019

Alzheimer’s disease (AD) is the most common type of dementia and, after age, the greatest risk factor for developing AD is the allelic variation of apolipoprotein E (ApoE), with homozygote carriers of the ApoE4 allele having an up to 12-fold gr...

  • Article
  • Open Access
7 Citations
4,949 Views
6 Pages

Skull Vibration-Induced Nystagmus Test (SVINT) in Vestibular Migraine and Menière’s Disease

  • Roberto Teggi,
  • Omar Gatti,
  • Marco Familiari,
  • Iacopo Cangiano and
  • Mario Bussi

8 November 2021

Background: Vestibular migraine (VM) and Menière’s disease (MD) are the two most frequent episodic vertigo apart from Benign Paroxysmal Positional Vertigo (BPPV) differential diagnosis for them may be troublesome in the early stages. SVINT is a newly...

(This article belongs to the Special Issue Skull Vibration-Induced Nystagmus Test)
  • Article
  • Open Access
8 Citations
4,144 Views
33 Pages

30 November 2021

Inositol 1, 4, 5-trisphosphate receptor (IP3R)-mediated Ca2+ signaling plays a pivotal role in different cellular processes, including cell proliferation and cell death. Remodeling Ca2+ signals by targeting the downstream effectors is considered an i...

(This article belongs to the Special Issue Drug Design and Virtual Screening)
  • Article
  • Open Access
3 Citations
4,249 Views
23 Pages

Investigating the Prevalence of RNA-Binding Metabolic Enzymes in E. coli

  • Thomas Klein,
  • Franziska Funke,
  • Oliver Rossbach,
  • Gerhard Lehmann and ,
  • Michael Vockenhuber,
  • Jan Medenbach,
  • Beatrix Suess,
  • Gunter Meister and
  • Patrick Babinger
  • + 4 authors+ 0 author

An open research field in cellular regulation is the assumed crosstalk between RNAs, metabolic enzymes, and metabolites, also known as the REM hypothesis. High-throughput assays have produced extensive interactome data with metabolic enzymes frequent...

(This article belongs to the Section Biochemistry)
  • Review
  • Open Access
62 Citations
16,970 Views
13 Pages

Antiphospholipid Syndrome in Pregnancy: New and Old Pathogenetic Mechanisms

  • Silvia D’Ippolito,
  • Greta Barbaro,
  • Carmela Paciullo,
  • Chiara Tersigni and ,
  • Giovanni Scambia and
  • Nicoletta Di Simone
  • + 1 author+ 0 author

6 February 2023

The antiphospholipid syndrome (APS) is a systemic autoimmune disorder characterized, according to the Sydney criteria, by the persistent presence of autoantibodies directed against phospholipid-binding proteins associated with thrombosis and/or obste...

(This article belongs to the Section Molecular Immunology)
  • Article
  • Open Access
2 Citations
3,250 Views
28 Pages

In-Depth Phenotyping of PIGW-Related Disease and Its Role in 17q12 Genomic Disorder

  • Agnese Feresin,
  • Mathilde Lefebvre,
  • Emilie Sjøstrøm,
  • Caterina Zanus and ,
  • Elisa Paccagnella,
  • Irene Bruno,
  • Erica Valencic,
  • Anna Morgan,
  • Alberto Tommasini and
  • Luciana Musante
  • + 8 authors+ 3 authors

18 December 2024

Glycosylphosphatidylinositol (GPI) biosynthesis defect 11 (GPIBD11), part of the heterogeneous group of congenital disorders of glycosylation, is caused by biallelic pathogenic variants in PIGW. This rare disorder has previously been described in onl...

(This article belongs to the Special Issue New Insight into the Molecular Genetics of Neurodevelopmental Disorders)
  • Article
  • Open Access
12 Citations
5,580 Views
16 Pages

5-(Indol-2-yl)pyrazolo[3,4-b]pyridines as a New Family of TASK-3 Channel Blockers: A Pharmacophore-Based Regioselective Synthesis

  • David Ramírez,
  • Melissa Mejia-Gutierrez,
  • Braulio Insuasty,
  • Susanne Rinné and ,
  • Aytug K. Kiper,
  • Magdalena Platzk,
  • Thomas Müller,
  • Niels Decher,
  • Jairo Quiroga and
  • Wendy González
  • + 6 authors+ 1 author

25 June 2021

TASK channels belong to the two-pore-domain potassium (K2P) channels subfamily. These channels modulate cellular excitability, input resistance, and response to synaptic stimulation. TASK-channel inhibition led to membrane depolarization. TASK-3 is e...

(This article belongs to the Special Issue Heterocycles in Medicinal Chemistry II)
  • Article
  • Open Access
9 Citations
3,997 Views
26 Pages

The effectiveness of disaster response depends on the correctness and timeliness of data regarding the location and the impact of the event. These two issues are critical when the data come from citizens’ tweets, since the automatic classificat...

  • Article
  • Open Access
3,131 Views
15 Pages

Associations Between Dietary Intakes of Omega-3 Fatty Acids, Blood Levels, and Pain Interference in People with Migraine: A Path Analysis of Randomized Trial Data

  • Jinyoung Park,
  • Zachary O. Kadro,
  • Gilson D. Honvoh,
  • Anthony F. Domeniciello and ,
  • Christopher E. Ramsden,
  • Keturah R. Faurot and
  • Vanessa E. Miller
  • + 2 authors+ 0 author

19 December 2025

Background/Objectives: Increasing evidence supports the hypothesis that dietary intervention can improve pain among individuals with headaches, including migraine, a highly prevalent condition that can be disabling. Non-pharmacologic treatments for m...

(This article belongs to the Section Lipids)
  • Article
  • Open Access
14 Citations
5,415 Views
15 Pages

A New Class of Uracil–DNA Glycosylase Inhibitors Active against Human and Vaccinia Virus Enzyme

  • Inga R. Grin,
  • Grigory V. Mechetin,
  • Rustem D. Kasymov,
  • Evgeniia A. Diatlova and ,
  • Anna V. Yudkina,
  • Sergei N. Shchelkunov,
  • Irina P. Gileva,
  • Alexandra A. Denisova,
  • Grigoriy A. Stepanov and
  • Dmitry O. Zharkov
  • + 6 authors+ 1 author

3 November 2021

Uracil–DNA glycosylases are enzymes that excise uracil bases appearing in DNA as a result of cytosine deamination or accidental dUMP incorporation from the dUTP pool. The activity of Family 1 uracil–DNA glycosylase (UNG) activity limits the efficienc...

(This article belongs to the Special Issue Synthetic Approaches and Therapeutic Potential of Pyrimidine Derivatives)
  • Article
  • Open Access
3,096 Views
24 Pages

24 October 2024

The coronavirus crisis hit both the world and national economies hard. By using a structural equation modelling (SEM) approach and microlevel data from the Community Innovation Survey (CIS2020) on a representative sample of 6437 Norwegian firms compr...

  • Article
  • Open Access
5 Citations
3,849 Views
12 Pages

Implications of Splicing Alterations in the Onset and Phenotypic Variability of a Family with Subclinical Manifestation of Peutz–Jeghers Syndrome: Bioinformatic and Molecular Evidence

  • Andrea Cerasuolo,
  • Francesca Cammarota,
  • Francesca Duraturo,
  • Annamaria Staiano and ,
  • Massimo Martinelli,
  • Erasmo Miele,
  • Paola Izzo and
  • Marina De Rosa
  • + 3 authors+ 0 author

2 November 2020

Peutz–Jeghers Syndrome (PJS) is an autosomal dominant pre-cancerous disorder caused in 80–90% of cases by germline mutations in the tumor suppressor gene STK11. We performed a genetic test of the STK11 gene in two Italian young sisters su...

(This article belongs to the Special Issue Biomarkers in Rare Diseases)