Article
Endocrinology & Metabolism
Radha Rama Devi Akella
Summary: The 3-M syndrome is a rare primordial growth disorder characterized by severe postnatal growth restriction and skeletal anomalies, with genetically heterogeneous cases showing similar phenotypes. Genetic diagnosis can assist in counseling families and facilitate prenatal diagnosis in some cases.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
(2022)
Review
Cell Biology
Guihong Liu, Tao Chen, Zhenyu Ding, Yang Wang, Yuquan Wei, Xiawei Wei
Summary: The FGF-FGFR signaling pathway and the VEGF-VEGFR signaling pathway play important roles in the treatment of tumors, and inhibitors targeting these two pathways can optimize therapeutic effects and expand the antitumor range. In addition, biomarkers should be developed in the future to predict efficacy, and combination with immune checkpoint inhibitors is a promising direction.
CELL PROLIFERATION
(2021)
Review
Medicine, Research & Experimental
Yogamaya D. Prabhu, Abilash Valsala Gopalakrishnan
Summary: PCOS is a metabolic condition affecting women in their reproductive age, where PUFA consumption may regulate menstrual cycle, decrease hormone levels, and improve metabolic health. The fibrillin-3 gene and TGF-β signaling have been linked to PCOS pathogenesis, suggesting that targeting TGF-β pathway with PUFAs could be a therapeutic strategy for PCOS.
Review
Biochemistry & Molecular Biology
Chen-Chen Jiang, Li-Shan Lin, Sen Long, Xiao-Yan Ke, Kohji Fukunaga, Ying-Mei Lu, Feng Han
Summary: Autism spectrum disorder (ASD) is a common and complex neurodevelopmental disorder with a strong genetic basis. Despite the limited understanding of its etiology, risk factors, and disease progression, significant progress has been made in genetics, identifying hundreds of genes associated with a high risk for autism. The involvement of signal transduction molecular events in pathological processes has important implications for precise molecular targeting in autism. This review provides insights into the mechanisms and clinical implications of signal transduction in autism, as well as future challenges and perspectives.
SIGNAL TRANSDUCTION AND TARGETED THERAPY
(2022)
Article
Biochemical Research Methods
Claudius L. Dietsche, Elisabeth Hirth, Petra S. Dittrich
Summary: A microfluidic platform was developed to quantitatively measure the secreted proteins of individual macrophages and macrophages polarized by breast cancer cells. The study successfully distinguished differently polarized macrophages by determining three signaling proteins. The results showed that macrophages treated with cancer cell supernatant exhibited a similar signaling pattern to M2 macrophages.
Article
Oncology
Kenji Ohshima, Ryo Oi, Daisuke Okuzaki, Daisuke Motooka, Masakazu Shinohara, Satoshi Nojima, Eiichi Morii
Summary: The study revealed that C14orf159 plays a role in maintaining mitochondrial membrane potential in human CRC cells and is involved in amino acid and glutathione metabolism. Decreased expression of C14orf159 was observed in invasive regions of CRC tumors and in metastasis. Additionally, C14orf159 was found to suppress migration, invasion, and growth of CRC cells in vitro, as well as tumor growth and metastasis in vivo by reducing the expression of genes related to CRC metastasis.
BRITISH JOURNAL OF CANCER
(2021)
Article
Genetics & Heredity
Beyhan Tuysuz, Zeynep Alp Unkar, Hande Turan, Alper Gezdirici, Dilek Uludag Alkaya, Busra Kasap, Gozde Yesil, Mehmet Vural, Oya Ercan
Summary: 3M syndrome is a rare genetic disorder characterized by distinctive facial and skeletal features. This study identified new early-diagnostic signs for infants and provided important insights into the long-term follow-up findings of patients with this syndrome.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2021)
Article
Oncology
Derek Dustin, Guowei Gu, Amanda R. Beyer, Sarah K. Herzog, David G. Edwards, Hangqing Lin, Thomas L. Gonzalez, Sandra L. Grimm, Cristian Coarfa, Doug W. Chan, Beom-Jun Kim, O. Jean-Paul De La, Matthew J. Ellis, Dan Liu, Shunqiang Li, Alana L. Welm, Suzanne A. W. Fuqua
Summary: This study identified hyperactivation of RON in ESR1 mutant cells and its association with acquired palbociclib-resistant models. The interaction between RON and IGF-1R was demonstrated, and combination therapy of endocrine therapy with a RON inhibitor effectively decreased organoid growth in ESR1 mutant models. Additionally, the combination therapy also reduced metastasis in an ESR1 Y537S mutant PDX model, suggesting RON/PI3K pathway inhibition as a potential treatment strategy for ESR1 mutant and PalbR MBC patients.
BRITISH JOURNAL OF CANCER
(2021)
Article
Oncology
David J. Propper, Fangfei Gao, Mark P. Saunders, Debashis Sarker, John A. Hartley, Victoria J. Spanswick, Helen L. Lowe, Louise D. Hackett, Tony T. Ng, Paul R. Barber, Gregory E. Weitsman, Sarah Pearce, Laura White, Andre Lopes, Sharon Forsyth, Daniel Hochhauser
Summary: This study examined the toxicity and efficacy of high-dose pulsed AZD8931 combined with chemotherapy in metastatic colorectal cancer. Results showed acceptable toxicity and some patients had good response to the treatment. Furthermore, a reduction in circulating HER2/3 dimer was observed after treatment.
BRITISH JOURNAL OF CANCER
(2023)
Article
Biochemistry & Molecular Biology
Muhammad Sajjad Bilal, Syeda Abida Ejaz, Seema Zargar, Naveed Akhtar, Tanveer A. Wani, Naheed Riaz, Adullahi Tunde Aborode, Farhan Siddique, Nojood Altwaijry, Hamad M. Alkahtani, Haruna Isiyaku Umar
Summary: This study identified potential anticancer compounds that specifically target Vascular Endothelial Growth Factor Receptor 2 (VEGFR 2) for the treatment of renal cancer. Through virtual screening, several oxadiazole derivatives were found to be the most potent inhibitors of VEGFR 2, with high selectivity and anticancer potential. In vitro experiments confirmed the anticancer effects of these compounds.
Article
Oncology
Zhongqiu Zhou, Zhuojun Zhang, Han Chen, Wenhao Bao, Xiangqin Kuang, Ping Zhou, Zhiqing Gao, Difeng Li, Xiaoyi Xie, Chunxiao Yang, Xuhong Chen, Jinyuan Pan, Ruiming Tang, Zhengfu Feng, Lihuan Zhou, Lan Wang, Jianan Yang, Lili Jiang
Summary: This study demonstrates that SBSN and secreted SBSN promote bladder cancer metastasis through activation of the EGFR/SRC/STAT3 pathway, identifying SBSN as a potential diagnostic and therapeutic target for bladder cancer.
BRITISH JOURNAL OF CANCER
(2022)
Review
Endocrinology & Metabolism
Kirsty A. Walters, Alba Moreno-Asso, Nigel K. Stepto, Michael W. Pankhurst, Valentina Rodriguez Paris, Raymond J. Rodgers
Summary: Polycystic ovary syndrome (PCOS) is a common endocrine condition with reproductive, endocrine, metabolic, and psychological abnormalities. The underlying mechanisms of PCOS are still largely unknown, but recent advances have identified potential factors such as androgens and insulin that may be involved. These scientific discoveries may have a significant impact on the development of effective strategies for PCOS.
JOURNAL OF ENDOCRINOLOGY
(2022)
Article
Multidisciplinary Sciences
Jing Liu, Kathryn A. Salvati, Scott C. Baraban
Summary: STXBP1 mutations are linked to various neurological disorders, and abnormal neural network activity under this mutation could play a key role in epileptic network formation. Using a zebrafish model combined with calcium imaging and electrophysiology recordings helps uncover this process.
Article
Biochemistry & Molecular Biology
Linus V. M. Hopf, Kheewoong Baek, Maren Kluegel, Susanne von Gronau, Yue Xiong, Brenda A. Schulman
Summary: This study reveals the assembly mechanism of CRL7(FBXW)(8) and finds discrepancies with existing models. The results show that CUL7 has an exclusive binding mode with FBXW8 and CRL7 serves as a substrate receptor linked via SKP1-FBXW8 to a neddylated CUL1-RBX1 catalytic module mediating ubiquitination. This finding provides insights into the protective role of CUL7 in human health.
NATURE STRUCTURAL & MOLECULAR BIOLOGY
(2022)
Article
Gastroenterology & Hepatology
Raphael Rapetti-Mauss, Jeremy Nigri, Camille Berenguier, Pascal Finetti, Sarah Simha Tubiana, Bonnie Labrum, Benoit Allegrini, Bernard Pellissier, Georgios Efthymiou, Zainab Hussain, Corinne Bousquet, Nelson Dusetti, Francois Bertucci, Helene Guizouarn, Patricia Melnyk, Franck Borgese, Richard Tomasini, Olivier Soriani
Summary: This study reveals that ion channel SK2 plays a role in intercellular communication in pancreatic ductal adenocarcinoma (PDAC). Stimulation of SK2 by cues from cancer-associated fibroblasts (CAFs) leads to the activation of the integrin-epidermal growth factor receptor (EGFR)-AKT signaling pathway, promoting cancer cell invasiveness and metastasis formation. The formation of the signaling hub involving SK2 and AKT requires the sigma-1 receptor chaperone. Targeting the sigma-1 receptor with pharmacological approaches inhibits tumor progression and prolongs overall survival in mice.
Article
Ophthalmology
Lucinda J. Teoh, Ameenat Lola Solebo, Jugnoo S. Rahi
Summary: This study investigates the changing epidemiology of severe visual impairment (SVI) and blindness (BL) in children in the UK in the 21st century. The overall incidence rates remained stable, with higher rates in infancy. Mortality among children diagnosed in infancy declined, despite an increase in the overall proportion with non-ophthalmic impairments/disorders. The relative contribution of different groups of disorders changed over time, with an increase in cerebral visual impairment and hereditary conditions. The study highlights the increasing complexity and heterogeneity of childhood visual disability.
BRITISH JOURNAL OF OPHTHALMOLOGY
(2023)
Article
Hematology
Tom Bull
Summary: This study evaluates the treatment delays in acute TTP among adult patients in the UK and provides information for improving prompt access to life-saving interventions.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
(2022)
Article
Oncology
Andrew J. Vickers, Amit Sud, Jonine Bernstein, Richard Houlston
Summary: The study proposes using polygenic risk scores (PRSs) based on single-nucleotide polymorphisms (SNPs) to determine high-risk subgroups for cancer screening. However, these PRSs only predict cancer incidence and do not address the issue of overdiagnosis. The authors develop a net-benefit framework to evaluate screening strategies, and find that screening based on a marker that predicts cancer mortality rather than incidence can lead to greater net benefits.
NPJ PRECISION ONCOLOGY
(2022)
Article
Ophthalmology
Assad Jalil, Tsveta Ivanova, George Moussa, Neil R. A. Parry, Graeme C. M. Black
Summary: This study reports the benefits and pitfalls of ocular gene therapy in the same patient. The first eye showed improvement, while the second eye experienced a drop in vision and loss of foveal photoreceptors. The case highlights the challenge of immune response in gene therapy.
Letter
Oncology
Rachel H. Horton, Malcolm G. Dunlop, Richard S. Houlston, Anneke Lucassen, Margaret McCartney, Alan McNeill, Amit Sud
BRITISH JOURNAL OF CANCER
(2023)
Letter
Oncology
Kari Hemminki, Janne Hemminki, Asta Foersti, Amit Sud
BLOOD CANCER JOURNAL
(2022)
Article
Obstetrics & Gynecology
Fiskani J. M. Kondowe, Peter Clayton, Matthew Gittins, Stephen W. D'Souza, Daniel R. Brison, Stephen A. Roberts
Summary: Assessments at 6-8 weeks old and at school entry show that ART twins conceived from frozen embryo transfer (FET) grow faster than both NC twins and ART twins conceived from fresh embryo transfer (ET).
HUMAN REPRODUCTION
(2023)
Article
Endocrinology & Metabolism
Katie Duckett, Alice Williamson, John W. R. Kincaid, Kara Rainbow, Laura J. Corbin, Hilary C. Martin, Ruth Y. Eberhardt, Qin Qin Huang, Matthew E. Hurles, Wen He, Raja Brauner, Angela Delaney, Leo Dunkel, Romina P. Grinspon, Janet E. Hall, Joel N. Hirschhorn, Sasha R. Howard, Ana C. Latronico, Alexander A. L. Jorge, Ken McElreavey, Veronica Mericq, Paulina M. Merino, Mark R. Palmert, Lacey Plummer, Rodolfo A. Rey, Raissa C. Rezende, Stephanie B. Seminara, Kathryn Salnikov, Indraneel Banerjee, Brian Y. H. Lam, John R. B. Perry, Nicholas J. Timpson, Peter Clayton, Yee-Ming Chan, Ken K. Ong, Stephen O'Rahilly
Summary: Deleterious variants in MC3R are more frequently found in patients with constitutional delay of growth and puberty (CDGP) compared to normosmic idiopathic hypogonadotropic hypogonadism (nIHH). However, these variants are not a common cause of CDGP.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Oncology
Catherine Huntley, Bethany Torr, Amit Sud, Charlie F. Rowlands, Rosalind Way, Katie Snape, Helen Hanson, Charles Swanton, John Broggio, Anneke Lucassen, Margaret McCartney, Richard S. Houlston, Aroon D. Hingorani, Michael E. Jones, Clare Turnbull
Summary: It is proposed that polygenic risk scores (PRSs), by targeting high-risk individuals, can improve the efficiency of cancer screening programs and expand their application to new age groups and types of cancer. This study presents an overview of the performance of PRS tools and the benefits and harms of PRS-stratified cancer screening for eight example cancers.
Article
Oncology
Kari Hemminki, Janne Hemminki, Asta Foersti, Amit Sud
Summary: Using data from four countries, a study shows that the survival rates for seven hematological malignancies have improved over half a century, thanks to advancements in diagnosis, risk stratification, and treatment.
Letter
Oncology
Dima El-Sharkawi, Amit Sud, Catherine Prodger, Jahanzaib Khwaja, Rohan Shotton, Brian Hanley, Victoria Peacock, Ying Ying Peng, Anita Arasaretnam, Sarkhara Sharma, Frances Aldridge, Bhupinder Sharma, Andrew Wotherspoon, Betty Cheung, Corinne De Lord, Rosalynd Johnston, Shireen Kassam, Ruth Pettengel, Kim Linton, Paul Greaves, Lucy Cook, Kikkeri N. Naresh, Kate Cwynarski, Toby A. Eyre, Ian Chau, David Cunningham, Sunil Iyengar
BLOOD CANCER JOURNAL
(2023)
Editorial Material
Medicine, General & Internal
Amit Sud, Rachel H. Horton, Aroon D. Hingorani, Ioanna Tzoulaki, Clare Turnbull, Richard S. Houlston, Anneke Lucassen
BMJ-BRITISH MEDICAL JOURNAL
(2023)
Article
Endocrinology & Metabolism
Terence Garner, Ivan Wangsaputra, Andrew Whatmore, Peter Ellis Clayton, Adam Stevens, Philip George Murray
Summary: This study demonstrates highly accurate diagnosis of childhood growth hormone deficiency using a combination of gene expression data and random forest analysis.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Environmental Sciences
Daniel M. Ripley, Terence Garner, Samantha A. Hook, Ana Verissimo, Bianka Grunow, Timo Moritz, Peter Clayton, Holly A. Shiels, Adam Stevens
Summary: Exposure to elevated temperatures during embryogenesis can alter the transcriptomic organization in later life, increasing the entropy of gene interaction networks and potentially impacting an individual's responsiveness to future temperature challenges.
SCIENCE OF THE TOTAL ENVIRONMENT
(2023)
Article
Genetics & Heredity
Shalaw Rassul Sallah, Jamie M. Ellingford, Panagiotis Sergouniotis, Simon C. Ramsden, Nicholas Lench, Simon C. Lovell, Graeme C. Black
Summary: The study developed an algorithm ProSper that combines genetic and protein structural data to predict the pathogenicity of missense variants in genes associated with X linked disorders, showing superior performance over existing tools; gene-specific pathogenicity thresholds were determined to enhance the performance of other prediction tools.
JOURNAL OF MEDICAL GENETICS
(2022)