Article
Neurosciences
Nicole A. Hawkins, Sunita N. Misra, Manuel Jurado, Seok Kyu Kang, Nicholas C. Vierra, Kimberly Nguyen, Lisa Wren, Alfred L. George, James S. Trimmer, Jennifer A. Kearney
Summary: Developmental and epileptic encephalopathies (DEE) are severe epilepsies with intractable seizures and developmental delay. Mutations in KCNB1 may disrupt the distribution of the K(V)2.1 channel at endoplasmic reticulum-plasma membrane junctions, leading to epilepsy and neurobehavioral abnormalities in a mouse model.
NEUROBIOLOGY OF DISEASE
(2021)
Article
Agronomy
Christopher J. Stubbs, Bharath Kunduru, Norbert Bokros, Virginia Verges, Jordan Porter, Douglas D. Cook, Seth DeBolt, Christopher McMahan, Rajandeep S. Sekhon, Daniel J. Robertson
Summary: This study quantifies the relationship between plant height and lodging resistance in maize. Both engineering analysis and field experiments indicate a nearly 1:1 relationship, suggesting that shorter plant height leads to higher lodging resistance.
FIELD CROPS RESEARCH
(2023)
Article
Physiology
Nicolas Doisne, Marta Grauso, Nathalie Mougenot, Michel Clergue, Charlotte Souil, Alain Coulombe, Pascale Guicheney, Nathalie Neyroud
Summary: Loss-of-function mutations in the cardiac Na+ channel alpha-subunit Na(v)1.5, specifically the BrS Na(v)1.5-R104W variant, have been shown to have a dominant-negative effect in vitro, leading to reduced Na+ current. In vivo studies using adeno-associated viruses (AAVs) in a murine model demonstrated the significant impact of this variant on cardiomyocytes, indicating a potential mechanism for Brugada syndrome.
FRONTIERS IN PHYSIOLOGY
(2021)
Article
Endocrinology & Metabolism
Afiya Andrews, Emily Cottrell, Avinaash Maharaj, Tasneem Ladha, Jack Williams, Katharina Schilbach, Lena R. Kaisinger, John R. B. Perry, Louise A. Metherell, Peter J. McCormick, Helen L. Storr
Summary: Two novel GHR gene variants were found in two GHI patients, which resulted in increased levels of cleaved GHR and GHBP, leading to inhibition of growth hormone (GH) signaling. These findings suggest a potential therapeutic approach of inhibiting GH binding by excess GHBP.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2023)
Review
Urology & Nephrology
Judy Savige
Summary: Autosomal dominant Alport syndrome, associated with heterozygous pathogenic COL4A3 or COL4A4 variants, is less common than X-linked disease. Recent studies show that end-stage kidney failure occurs in 14% to 30% of individuals with heterozygous pathogenic COL4A3 or COL4A4 variants, while hearing loss and ocular defects occur less frequently.
KIDNEY INTERNATIONAL REPORTS
(2022)
Review
Environmental Sciences
Xue Jiang, Rui Wang, Tiantian Chang, Yonghui Zhang, Kangyong Zheng, Ruihan Wan, Xueqiang Wang
Summary: This study aims to systematically review the effects of short-term exposure to different air pollutants on migraine attacks. The research will follow the guidelines of the World Health Organization and use systematic review and meta-analysis methods to evaluate the association between air pollution and migraine.
ENVIRONMENT INTERNATIONAL
(2023)
Article
Biochemistry & Molecular Biology
Austin L. Wang, Edwina A. Mambou, Aimee W. Kao
Summary: This study reveals that the balance between full-length Progranulin and its cleavage products, Granulin peptides, plays an important role in regulating lysosomal biology. Granulin peptides inhibit lysosomal function even in the presence of intact Progranulin, leading to impaired degradation of disease-relevant proteins. Therefore, processing of Progranulin into Granulin should be considered as a potential therapeutic target for diseases.
HUMAN MOLECULAR GENETICS
(2023)
Article
Multidisciplinary Sciences
Lisa Stephan, Marc Jakoby, Arijit Das, Eva Koebke, Martin Huelskamp
Summary: In eukaryotic cells, the directional movement and positioning of organelles and macromolecules are regulated by actin-based processes driven by class XI myosins in plants. Analysis of myosin function is challenging due to redundancy, leading to the use of dominant negative acting truncated myosins. Comparing the dominant negative effect of coiled-coil domains and GTD domains revealed a stronger inhibition of P-body movement by GTD domains, suggesting a competition for cargo binding sites.
Article
Oncology
Amr Ghaleb, Lucia Roa, Natalia Marchenko
Summary: The biological consequences of low-dose radiation (LDR) in breast cancer are unclear, while high-dose radiation (HDR) promotes DNA repair and cell cycle arrest. Mutant p53 promotes mammary tumorigenesis following LDR, but has negligible effects on tumors carrying the wild-type p53 allele.
Article
Medicine, Research & Experimental
Carlos Bravo-Perez, Mara Toderici, Joseph E. Chambers, Jose A. Martinez-Menarguez, Pedro Garrido-Rodriguez, Horacio Perez-Sanchez, Belen De La Morena-Barrio, Jose Padilla, Antonia Minano, Rosa Cifuentes-Riquelme, Vicente Vicente, Maria L. Lozano, Stefan J. Marciniak, Maria Eugenia de la Morena-Barrio, Javier Corral
Summary: This study characterized the biological and clinical impact of variants involving C-terminal antithrombin and found that the clinical phenotypes of these genetic changes are consistent with their dominant-negative effects.
Article
Cell Biology
Shibo Huang, Bo Cao, Jieqiong Wang, Yiwei Zhang, Elisa Ledet, Oliver Sartor, Yuqin Xiong, Shelya X. Zeng, Hua Lu
Summary: The study identifies a novel form of p53 mutation, p53 long C-terminus (p53LC), present in various human cancers, which exhibits loss-of-function and dominant-negative effects. These mutants interact with wild-type p53, retaining it in the cytoplasm and preventing it from binding to target gene promoters, thereby inhibiting its transcriptional activity. Additionally, the mutants render p53-containing cancer cells insensitive to p53-activating agents.
JOURNAL OF MOLECULAR CELL BIOLOGY
(2022)
Article
Pediatrics
Naama Fisch Shvalb, Liora Lazar, Sharon Demol, Marie Mouler, Marianna Rachmiel, Eli Hershkovitz, Raanan Shamir, Moshe Phillip, Michal Yackobovitch-Gavan
Summary: This study evaluated the effect of nutritional supplementation on height, weight and body composition in short and lean male preadolescents. The results showed that good compliance with the formula led to significant improvements in weight-SDS, fat-free-mass, muscle mass, and BMI-SDS. Additionally, older boys who were good formula consumers maintained their Delta height-SDS, while those who consumed less formula or were in the placebo group experienced a decline.
Article
Pediatrics
Min Jeong Jang, Moon Bae Ahn
Summary: Fibroblast growth factor receptors (FGFRs) play an important role in regulating the development of epiphyseal cartilage cells. Gene mutations in FGFRs can disrupt endochondral bone formation and lead to conditions such as short stature. This case report describes a 4-year-old girl with Pfeiffer syndrome, who showed improvement in height after receiving growth hormone therapy. The report highlights the importance of performing growth hormone provocation tests for patients with FGFR gene mutations, regardless of bone age.
Article
Multidisciplinary Sciences
Ryo Kubota, Nabin R. Joshi, Inna Samandarova, Maksud Oliva, Arkady Selenow, Amitava Gupta, Steven R. Ali
Summary: The study found that short-term peripheral myopic defocus significantly inhibited axial elongation in adult humans, without significant changes in choroidal thickness.
SCIENTIFIC REPORTS
(2021)
Article
Ophthalmology
Shifei Wei, Yunyun Sun, Shi-Ming Li, Jian-Ping Hu, Kai Cao, Wenzai An, Ji-Yuan Guo, He Li, Ningli Wang
Summary: The study found that taller young adults tend to have longer eyes, deeper anterior chambers, flatter corneas, higher axial length-corneal radius ratio, and more negative refraction. In contrast, heavier and higher body mass index individuals are more likely to be hyperopic. These differences in stature may partially explain the variations in refraction and ocular biometric parameters.
CLINICAL AND EXPERIMENTAL OPTOMETRY
(2021)
Article
Biochemistry & Molecular Biology
Motonobu Nakamura, Nobuhiko Satoh, Masashi Suzuki, Haruki Kume, Yukio Homma, George Seki, Shoko Horita
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2015)
Article
Physiology
Nobuhiko Satoh, Hideomi Yamada, Osamu Yamazaki, Masashi Suzuki, Motonobu Nakamura, Atsushi Suzuki, Akira Ashida, Daisuke Yamamoto, Yoshitsugu Kaku, Takashi Sekine, George Seki, Shoko Horita
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
(2016)
Review
Biotechnology & Applied Microbiology
Shoko Horita, Motonobu Nakamura, Masashi Suzuki, Nobuhiko Satoh, Atsushi Suzuki, George Seki
BIOMED RESEARCH INTERNATIONAL
(2016)
Review
Biotechnology & Applied Microbiology
Nobuhiko Satoh, Motonobu Nakamura, Atsushi Suzuki, Hiroyuki Tsukada, Shoko Horita, Masashi Suzuki, Kyoji Moriya, George Seki
BIOMED RESEARCH INTERNATIONAL
(2017)
Article
Genetics & Heredity
Shoko Horita, Enver Simsek, Tulay Simsek, Nilgun Yildirim, Hiroyuki Ishiura, Motonobu Nakamura, Nobuhiko Satoh, Atsushi Suzuki, Hiroyuki Tsukada, Tomohito Mizuno, George Seki, Shoji Tsuji, Masaomi Nangaku
BMC MEDICAL GENETICS
(2018)
Article
Urology & Nephrology
Motonobu Nakamura, Hiroyuki Tsukada, George Seki, Nobuhiko Satoh, Tomohito Mizuno, Wataru Fujii, Shoko Horita, Kyoji Moriya, Yusuke Sato, Haruki Kume, Masaomi Nangaku, Masashi Suzuki
KIDNEY INTERNATIONAL
(2020)
Article
Physiology
M. Nakamura, N. Satoh, H. Tsukada, T. Mizuno, W. Fujii, A. Suzuki, S. Horita, M. Nangaku, M. Suzuki
PHYSIOLOGY INTERNATIONAL
(2020)
Article
Education & Educational Research
Shoko Horita, Yoon-Soo Park, Daisuke Son, Masato Eto
Summary: The study found that there were correlations between the results of Japan Residency Matching Program (JRMP) and certain factors/stations of pre-clinical clerkship (OSCE), while no correlation was found between the JRMP results and Computer-Based Test (CBT) results. It was also discovered that scores from the pre-clinical clerkship OSCE and CBT could predict important outcomes like JRMP and National Board Examination (NBE).
BMC MEDICAL EDUCATION
(2021)
Article
Biochemistry & Molecular Biology
Tomohito Mizuno, Nobuhiko Satoh, Shoko Horita, Hiroyuki Tsukada, Mayuko Takagi, Yusuke Sato, Haruki Kume, Masaomi Nangaku, Motonobu Nakamura
Summary: Oxidized phospholipid azPC stimulates renal proximal tubule sodium-coupled bicarbonate transport via the CD36/PPAR gamma/mitogen-activated protein/ERK kinase/ERK pathway.
JOURNAL OF BIOLOGICAL CHEMISTRY
(2022)
Article
Medicine, General & Internal
Junki Mizumoto, Daisuke Son, Masashi Izumiya, Shoko Horita, Masato Eto
Summary: By learning about the social determinants of health and assessment tools, residents acquired knowledge and skills, reflected on their previous practice, and changed their views. They learned when and how to ask about patients' social conditions and coordinate medical care appropriately. Medical education about the social determinants of health can trigger changes in residents' views.
JOURNAL OF GENERAL AND FAMILY MEDICINE
(2022)
Article
Education, Scientific Disciplines
Junki Mizumoto, Toshichika Mitsuyama, Satoshi Kondo, Masashi Izumiya, Shoko Horita, Masato Eto
Summary: This study describes the process of patient care related to social determinants of health (SDH) in primary care settings, using a modified Delphi technique to generate expert consensus. The process was divided into four components: communication, practice, maintenance, and advocacy, with an emphasis on ongoing patient-physician relationships and collaboration with professionals and stakeholders. Further research is needed to explore the impact of this framework on medical education, quality of patient care, and patient outcomes.
Article
Medicine, General & Internal
Junki Mizumoto, Toshichika Mitsuyama, Shinichiro Kumagaya, Masato Eto, Masashi Izumiya, Shoko Horita
Summary: This study explored the psychological and social effects of the COVID-19 disaster on nurses working in primary care, and how they overcame the difficulties. The findings showed that nurses faced various challenges during the pandemic, but also discovered strength and professionalism, and achieved personal growth through the Tojisha-Kenkyu framework.
JOURNAL OF GENERAL AND FAMILY MEDICINE
(2022)
Review
Pharmacology & Pharmacy
Motonobu Nakamura, Nobuhiko Satoh, Shoko Horita, Masaomi Nangaku
Summary: This review provides an overview of the relationship between mTOR and renal gluconeogenesis, emphasizing the importance of mTOR in regulating glucose metabolism, while also suggesting that mTOR signaling defects may lead to various pathological conditions.
FRONTIERS IN PHARMACOLOGY
(2022)
Article
Education & Educational Research
Hirohisa Fujikawa, Daisuke Son, Hiroko Mori, Satoshi Kondo, Shoko Horita, Masashi Izumiya, Masato Eto
Summary: This study aimed to develop a vaccination training course for medical students and assessed its educational effectiveness. The results showed that the course significantly improved students' vaccination techniques and confidence, and received positive evaluations.
BMC MEDICAL EDUCATION
(2023)
Review
Urology & Nephrology
Shoko Horita, Motonobu Nakamura, Masashi Suzuki, Nobuhiko Satoh, Atsushi Suzuki, Yukio Homma, Masaomi Nangaku
KIDNEY RESEARCH AND CLINICAL PRACTICE
(2017)