Article
Biology
Leandro M. Velez, Cassandra Van, Timothy Moore, Zhenqi Zhou, Casey Johnson, Andrea L. Hevener, Marcus M. Seldin
Summary: In this study, the genetic correlations of gene expression were investigated to understand how skeletal muscle interacts with metabolic tissues. The study found that there were little relative differences in myokine gene regulation and muscle cell composition between males and females. However, significant cross-tissue enrichments were found to operate in a sex-specific or hormone-dependent fashion, particularly with estradiol. The study also identified several sex-dependent mechanisms of myokine signaling.
Review
Physiology
Anastasia Adella, Jeroen H. F. de Baaij
Summary: The mammalian target of rapamycin (mTOR) signaling pathway is crucial for maintaining cell growth and metabolism, especially in the kidney. Different segments of the renal tubule have different roles for mTORC1 and mTORC2 in regulating nutrient transport, NKCC2 expression and activity, and Na+ reabsorption and K+ excretion. However, the upstream activators of mTOR signaling in most nephron segments remain elusive, and further understanding of growth factor signaling and nutrient sensing is essential to establish the exact role of mTOR in kidney physiology.
Review
Critical Care Medicine
David Zhang, Chad A. Newton
Summary: Familial pulmonary fibrosis (FPF) is a unique subgroup with poor prognosis and idiopathic pulmonary fibrosis as the most common subtype. Patients with FPF have worse survival compared to sporadic cases, indicating possible underlying genetic factors. Studies have identified rare variants in surfactant and telomere-related genes in FPF kindreds, suggesting a genetic susceptibility in pulmonary fibrosis as a whole.
Review
Biochemistry & Molecular Biology
Franz Sellner, Eva Comperat, Martin Klimpfinger
Summary: Isolated pancreatic metastases of renal cell carcinoma (IsPMRCC) is a rare manifestation of metastatic renal cell carcinoma, and it has unique clinical characteristics such as delayed metastasis, multiple metastases, favorable treatment outcomes, and insensitivity to risk factors associated with volume and growth rate in metastatic surgery.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Clinical Neurology
Miryam Carecchio, Michele Mainardi, Giulia Bonato
Summary: Primary familial brain calcification (PFBC), also known as Fahr's disease, is a rare neurodegenerative disease characterized by progressive bilateral calcification of the microvessels in the brain. The disease is caused by altered function of the Neurovascular Unit (NVU), leading to dysfunction of the blood-brain barrier and progressive neurodegeneration. Multiple genes have been identified as causative factors, and clinical presentation can vary from asymptomatic to movement disorders, cognitive decline, and psychiatric disturbances.
JOURNAL OF NEUROLOGY
(2023)
Article
Genetics & Heredity
Ahmed Khattab, Ali Torkamani
Summary: This study investigates the genetic basis of diabetic kidney disease (DKD) in type 2 diabetes (T2D) using data from the UK Biobank. The results confirm two loci previously associated with chronic kidney disease and creatinine estimated glomerular filtration rate in T2D, and also identify a novel association between DKD and a variant rs72763500, which is a splicing quantitative trait locus for the nidogen-1 gene.
Article
Genetics & Heredity
Joana Carvalho, Patricia Oliveira, Janine Senz, Celina Sao Jose, Samantha Hansford, Sara Pinto Teles, Marta Ferreira, Giovanni Corso, Hugo Pinheiro, Diana Lemos, Valeria Pascale, Franco Roviello, David Huntsman, Carla Oliveira
Summary: This study provides the first data-driven testing criteria for Familial Intestinal Gastric Cancer (FIGC) families and supports FIGC as a genetically determined, likely polygenic, gastric cancer-predisposing disease with earlier onset and distinct from patients with Sporadic Intestinal Gastric Cancer (SIGC) at the germline and somatic levels. The study found that FIGC patients developed gastric cancer at least 10 years earlier and carried more TP53 germline common variants than SIGC patients, with distinct germline and somatic variant profiles between FIGC and SIGC.
JOURNAL OF MEDICAL GENETICS
(2021)
Article
Biochemistry & Molecular Biology
Zhuoyue Song, Mengru Zhu, Jun Wu, Tian Yu, Yao Chen, Xianying Ye, Shijie Li, Nenggui Xu
Summary: Cucumaria frondosa polysaccharides (CFPs) can alleviate renal interstitial fibrosis by inhibiting the PI3K/AKT/NF-kappa B signaling pathway, improving renal function, reducing inflammation and fibrosis, and inhibiting the deposition of extracellular matrix and epithelial-mesenchymal transition.
Article
Geriatrics & Gerontology
Joao Pedro Nunes Goncalves, Tauana Bernardes Leoni, Melina Pazian Martins, Thiago Mazzo Peluzzo, T. Mario Emilio Dourado, M. Jonas Alex Saute, Anna Paula Paranhos Miranda Covaleski, Acary Souza Bulle de Oliveira, Rinaldo Claudino, Wilson Marques, Anamarli Nucci, C. Marcondes Franca
Summary: The study in Brazil found that VAPB and C9orf72 are the most common genes related to fALS, accounting for 30% and 22% respectively. Novel variants in ALS genes, such as SOD1 Val120Leu and ANXA11 Asp40Tyr, were also identified.
NEUROBIOLOGY OF AGING
(2021)
Article
Cardiac & Cardiovascular Systems
F. Girolami, V. Spinelli, S. Passantino, E. Bennati, G. B. Calabri, I. Olivotto, S. Favilli
Summary: Pediatric cardiomyopathies exhibit significant phenotypic and genetic heterogeneity, and genetic testing plays a key role in diagnosis and treatment.
INTERNATIONAL JOURNAL OF CARDIOLOGY
(2021)
Review
Plant Sciences
Hao Wu, Philip W. Becraft, Joanne M. Dannenhoffer
Summary: This article provides a detailed account of maize endosperm development at the cellular and histological levels, covering early developmental stages and developmental patterns of various individual tissues and cell types. It also discusses key changes that have occurred during maize domestication and prospects for utilizing knowledge of endosperm development regulation to improve maize grain quality.
FRONTIERS IN PLANT SCIENCE
(2022)
Article
Psychology, Developmental
Robert J. Loughnan, Clare E. Palmer, Carolina Makowski, Wesley K. Thompson, Deanna M. Barch, Terry L. Jernigan, Anders M. Dale, Chun Chieh Fan
Summary: Many behaviors show shared genetic influences among youth, but emerging psychopathologies also exhibit specificity for individuals with high genetic risk.
JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
(2022)
Review
Immunology
Tracoyia Roach, Laurence Morel
Summary: Immune homeostasis relies on the balance between effector T cells and regulatory T cells. Studies have identified genetic factors that maintain the stability and suppressive function of regulatory T cells, which could potentially be targeted for therapeutic intervention against autoimmunity.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Deepesh D. Gaikwad, Nilima S. Bangar, Mayura M. Apte, Armaan Gvalani, Rashmi S. Tupe
Summary: This study discovers that the interaction between aldosterone and glycated albumin in diabetic nephropathy can cause oxidative stress, reduce levels of antioxidants and glycation detoxifying enzymes, and result in renal cell damage.
INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES
(2022)
Article
Oncology
Muhittin Akarsu, Guentulu Ak, Emine Dundar, Muzaffer Metintas
Summary: This study identified the PIK3R4 gene as directly associated with the development of mesothelioma and also found other genes associated with cancer. Further research is needed to determine the specific gene region through scanning first-degree relatives of individuals.
JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY
(2023)