Article
Genetics & Heredity
Jonas Donner, Jamie Freyer, Stephen Davison, Heidi Anderson, Matthew Blades, Leena Honkanen, Laura Inman, Casey A. Brookhart-Knox, Annette Louviere, Oliver P. Forman, Rebecca Chodroff Foran
Summary: The study found that disease-associated genetic mutations are common in dogs, and many health issues are shared by both mixed breed and purebred dogs. The study also emphasizes the importance of avoiding excessive inbreeding in dogs, as lower genetic diversity levels are associated with an increased risk for inherited diseases. Overall, this study provides an important resource to guide genetic counseling for inherited diseases across the dog population.
Review
Pharmacology & Pharmacy
Elena Puris, Gert Fricker, Mikko Gynther
Summary: Transporter-mediated drug resistance is a major obstacle in anticancer drug delivery. Low expression of SLC transporters in cancer cells limits drug uptake, resulting in drug therapy failure. Strategies targeting SLC transporters, such as prodrugs and nanocarriers, as well as modulation of transporter expression, hold promise for efficient drug delivery in cancer cells.
Article
Clinical Neurology
Atif Towheed, Christian L. Hietanen, Vasudeva G. Kamath, Larry N. Singh, Angela Ho, Kristin Engelstad, Kayla Cornett, Jacqueline Montes, Darryl De Vivo
Summary: This case study described a disease presenting with mitochondrial dysfunction, ultimately diagnosed as hypotonia-cystinuria 2p21 deletion syndrome. There were clinical differences between the siblings, showing phenotypic variability within the family.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2021)
Review
Pharmacology & Pharmacy
Vojtech Dvorak, Tabea Wiedmer, Alvaro Ingles-Prieto, Patrick Altermatt, Helena Batoulis, Felix Baerenz, Eckhard Bender, Daniela Digles, Franz Durrenberger, Laura H. Heitman, Adriaan P. IJzerman, Douglas B. Kell, Stefanie Kickinger, Daniel Koerzoe, Philipp Leippe, Thomas Licher, Vania Manolova, Riccardo Rizzetto, Francesca Sassone, Lia Scarabottolo, Avner Schlessinger, Vanessa Schneider, Hubert J. Sijben, Anna-Lena Steck, Hanna Sundstrom, Sara Tremolada, Maria Wilhelm, Marina Wright Muelas, Diana Zindel, Claire M. Steppan, Giulio Superti-Furga
Summary: The solute carrier (SLC) superfamily is the largest family of transporters with important roles in health and disease, yet many SLCs remain understudied. Challenges in SLC research include lack of tools for investigation and scattered information on assay strategies. The Innovative Medicines Initiative consortium RESOLUTE aims to accelerate research on SLCs by providing high-quality resources and data.
FRONTIERS IN PHARMACOLOGY
(2021)
Review
Immunology
Lin Shao, Mengxin Yang, Tao Sun, Haotang Xia, Dan Du, Xun Li, Zuliang Jie
Summary: Dendritic cells rely on solute carrier transporters for metabolic reprogramming and diverse immunological responses. This review provides an overview of the central roles of SLC proteins and their transported substrates in shaping DC functions, emphasizing their contributions to DC homeostasis under various pathological conditions. Targeting SLCs in DCs may offer potential strategies for immunotherapy.
EUROPEAN JOURNAL OF IMMUNOLOGY
(2023)
Review
Biochemistry & Molecular Biology
Mathias Ziegler, Magnus Monne, Andrey Nikiforov, Gennaro Agrimi, Ines Heiland, Ferdinando Palmieri
Summary: Subcellular compartmentation is a fundamental property of eukaryotic cells, where the transport of solutes across membranes plays a crucial role in cellular communication and metabolic regulation. In mammals, the SLC family comprises carriers that selectively transport molecules across biological membranes, with the SLC25 family playing a particularly important role in supplying mitochondria with metabolic intermediates. The recent discovery of SLC25A51 as the major mitochondrial NAD(+) carrier in mammals has resolved a long-standing mystery in NAD(+) biology.
Article
Medicine, General & Internal
Omar M. Halalsheh, Mustafa A. Al-Shehabat, Moh''D A. Al-Ghazo, Ibrahim F. Al-Ghalayini, Yaman A. Altal, Radwan Al-Okour, Omar Altal
Summary: The study revealed that most patients with cystinuria have mutations in the SLC7A9 gene, with no significant correlation with gender. These mutations can be utilized as molecular tools for diagnosing cystinuria.
ANNALS OF MEDICINE AND SURGERY
(2021)
Review
Pharmacology & Pharmacy
Vojtech Dvorak, Giulio Superti-Furga
Summary: Solute carriers (SLCs) are the largest group of membrane transporters in the human genome, and they are central in controlling metabolism compartmentalization, with most of this superfamily being linked to human diseases. Despite being considered attractive therapeutic targets, many SLCs still lack functional and structural annotations.
EXPERT OPINION ON DRUG DISCOVERY
(2023)
Article
Biochemistry & Molecular Biology
Ludwik Gorczyca, Jianyao Du, Kristin M. Bircsak, Xia Wen, Anna M. Vetrano, Lauren M. Aleksunes
Summary: The study revealed that low oxygen concentration differentially regulates transporter expression in human placental models, leading to both upregulation and downregulation of specific transporters. Additionally, transcriptional regulators of transporters were found to be affected by hypoxia. This suggests that oxygen concentration plays a role in regulating transporter expression across experimental human placental models.
Article
Biochemistry & Molecular Biology
Daniel W. Valencia, Ady B. Melendez, Isaac A. Melendrez, Erik T. Yukl
Summary: ATP binding cassette (ABC) transporters are the primary means by which bacteria acquire trace elements from the environment. They rely on solute binding proteins (SBPs) to bind the relevant substrate and deliver it to the integral membrane permease for ATP-powered import into the cytoplasm. A newly discovered family of zinc SBPs, represented by ZrgA proteins, has been found in Gram-negative bacteria, including human pathogens.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Pharmacology & Pharmacy
Sana Latif, Young-Sook Kang
Summary: This study investigated the role of defective solute carrier transporters in neurotransmitter dysregulation and neurodegenerative diseases. The findings suggest that different transporters have varying expressions and functions in the blood-brain barrier and motor neuron diseases.
Article
Medicine, General & Internal
Damian Malinowski, Pawel Grzegolkowski, Katarzyna Piotrowska, Marcin Slojewski, Marek Drozdzik
Summary: This study aimed to characterize the expression and localization of membrane transporters and carriers in the seminal vesicles. The results confirm the secretory and barrier functions of the seminal vesicle epithelium.
JOURNAL OF CLINICAL MEDICINE
(2022)
Review
Agriculture, Dairy & Animal Science
Simona Kovarikova, Petr Marsalek, Katerina Vrbova
Summary: Cystinuria is a metabolic disorder affecting dogs and cats, leading to potential urethral stones. Mutation in genes and the mode of inheritance causing cystinuria have been identified in only some canine breeds.
Review
Oncology
Zijian Wu, Jin Xu, Chen Liang, Qingcai Meng, Jie Hua, Wei Wang, Bo Zhang, Jiang Liu, Xianjun Yu, Si Shi
Summary: Pancreatic cancer is a deadly gastrointestinal tumor with limited improvements in patient prognosis despite advances in surgical procedures. Solute carriers (SLCs) play important roles in regulating cellular functions, with significant implications for pancreatic cancer.
CLINICAL AND TRANSLATIONAL MEDICINE
(2021)
Article
Biochemistry & Molecular Biology
Klaus Schicker, Shreyas Bhat, Clemens Farr, Verena Burtscher, Andreas Horner, Michael Freissmuth, Walter Sandtner
Summary: Plasmalemmal solute carriers (SLCs) regulate solute abundance across cellular membranes and mutations in SLC genes can result in impaired protein function and monogenic disorders. Functional assays provide insights into how mutations impact partial reactions in SLC transporters.
Article
Biochemistry & Molecular Biology
Mehdi Khorrami, Erfan Khorram, Omid Yaghini, Mojgan Rezaei, Arash Hejazifar, Omid Iravani, Vida Yazdani, Maryam Riahinezhad, Majid Kheirollahi
Summary: Vanishing white matter disease (VWM) is a rare autosomal recessive leukodystrophy caused by mutations in genes encoding translation initiation factors. This study reported a VWM case with prenatal-onset and mild symptoms, caused by a mutation in the EIF2B3 gene. The patient survived until the age of seven without experiencing seizures, indicating potential factors influencing disease prognosis and survival.
JOURNAL OF MOLECULAR NEUROSCIENCE
(2021)
Review
Genetics & Heredity
Mehdi Khorrami, Mohammad Amin Tabatabaiefar, Erfan Khorram, Omid Yaghini, Mojgan Rezaei, Arash Hejazifar, Maryam Riahinezhad, Majid Kheirollahi
Summary: The TFG gene has been associated with SPG57, with two Iranian families carrying c.41A>G and c.316C>T variants showing varying clinical symptoms possibly linked to affected domains.
JOURNAL OF HUMAN GENETICS
(2021)
Review
Microbiology
Manijeh Mahdavi, Isabelle Laforest-Lapointe, Eric Masse
Summary: Colorectal cancer (CRC), the third most common cancer globally, is on the rise in emerging countries due to factors like lack of physical activity and poor diet brought on by industrialization. Prebiotics, which can help maintain gut microbial balance and mitigate dysbiosis, may be beneficial in preventing inflammation and CRC development.
Article
Biochemistry & Molecular Biology
Sasan Radfar, Reza Ghanbari, Halimeh Rezaei, Majid Kheirollahi, Ali Attaripour Isfahani
Summary: In this study, novel blackberry-like magnetic DNA/FMMA nanospheres were synthesized and used as signal amplification probes to develop a biosensor for the detection of miRNA-106a. The biosensor demonstrated considerable selectivity, acceptable storage stability, high specificity, and excellent performance in real sample analysis without any pretreatments.
BIOELECTROCHEMISTRY
(2022)
Article
Orthopedics
Seyed Peyman Mirghaderi, Maryam Salimi, Majid Kheirollahi, Seyed Mohammad Javad Mortazavi, Hossein Akbari-Aghdam
Summary: This study investigated the relationship between COL1A1 polymorphism and ACL injury, as well as its effect on postoperative outcomes of ACL reconstruction surgery. The results showed that COL1A1 rs1107946 (G/T) polymorphism was not a predisposing genetic factor for ACL injury in young professional male athletes in the Middle East, and the treatment response did not differ among different genotypes.
JOURNAL OF ORTHOPAEDIC SURGERY AND RESEARCH
(2022)
Article
Biochemical Research Methods
Reza Ghanbari, Ali Attaripour Isfahani, Sina Pirmoradian, Halimeh Rezaei, Sasan Radfar, Majid Kheirollahi
Summary: This research developed a simple biosensing method for the ultrasensitive and specific detection of three miRs related to breast cancer. It involves the use of S9.6 antibody coated magnetic beads, titanium phosphate nanospheres, and a screen-printed carbon electrode. The method allows for the direct and rapid detection of multiple microRNAs in real samples.
ANALYTICAL BIOCHEMISTRY
(2023)
Article
Medicine, General & Internal
Maryam Mirsafaie, Lida Moghaddam- Banaem, Majid Kheirollahi
Summary: This study investigated the relationship between fetal chromosome aberrations and screening markers in the first trimester of pregnancy. The results showed a significant association between chromosomal structural abnormalities and free beta-hCG values as well as abnormal nuchal translucency (NT) percentiles. The study highlights the importance of studying chromosomal structural disorders.
INTERNATIONAL JOURNAL OF PREVENTIVE MEDICINE
(2022)
Article
Medicine, General & Internal
Mohadeseh Vishteh, Mehrdad Zeinalian, Majid Kheirollahi, Amirreza Mamaghani, Mohammad Ali Zolfaghari, Aliyar Mirzapour, Meisam Barati, Seyed Seyed Tabaei
Summary: The methylation at the CDH1 promoter may contribute to the development of DGC, and the AC genotype is associated with the risk of DGC.
INTERNATIONAL JOURNAL OF PREVENTIVE MEDICINE
(2022)
Article
Medicine, General & Internal
Fatemeh Heidari Soureshjani, Majid Kheirollahi, Parichehreh Yaghmaei, Fattah Sotoodehne Jadnematalahi
Summary: In this experimental study, the preventive effects of Hyoscyamoside and donepezil on plaque formation and improvement of neurogenic inflammation in AD rats were evaluated. The results showed that both compounds effectively inhibited the formation of A beta, decreased IL-6 levels, and increased IL-4 levels, indicating their potential as preventive agents in AD therapy.
INTERNATIONAL JOURNAL OF PREVENTIVE MEDICINE
(2021)
Article
Clinical Neurology
Rokhsareh Meamar, Sima Sabbagh, Mehdi Khorrami, Mojgan Asadian Ghahfarokhi, Ahmad Chitsaz, Majid Kheirollahi
Summary: This study identified a pathogenic gene mutation causing familial Parkinson's disease using whole exome sequencing (WES), highlighting the importance of further research into disease mechanisms and treatment strategies, as well as the significance of genetic counseling for patients with a family history of the disease.
Review
Genetics & Heredity
Manijeh Mahdavi, Seyedeh M. Sharafi, Seyede S. Daniali, Roya Riahi, Majid Kheirollahi
GLOBAL MEDICAL GENETICS
(2020)
Review
Genetics & Heredity
Seyedeh Maryam Sharafi, Manijeh Mahdavi, Roya Riahi, Majid Kheirollahi, Roya Kelishadi
GLOBAL MEDICAL GENETICS
(2020)
Article
Clinical Neurology
Mehdi Khorrami, Manijeh Mahdavi, Fatemeh Fakhr, Majid Kheirollahi
IRANIAN JOURNAL OF CHILD NEUROLOGY
(2019)
Article
Oncology
Abbas Moridnia, Mohammad Amin Tabatabaiefar, Mehrdad Zeinalian, Mohammad Minakari, Majid Kheirollahi, Noushin Afshar Moghaddam
JOURNAL OF GASTROINTESTINAL CANCER
(2019)
Article
Medicine, General & Internal
Tayebeh Mottaghi, Fariborz Khorvash, Majid Kheirollahi, Mohammadreza Maracy, Gholamreza Askari
JOURNAL OF RESEARCH IN MEDICAL SCIENCES
(2019)