Article
Medicine, General & Internal
Lu Yu, Fang Yu, Zongrui Ma, Huilin Lu, Jian Luo, Ting Sun, Qin Liu, Shenglian Gan
Summary: This article reports a rare case of insulin resistance syndrome in a child and highlights the importance of genetic testing for early diagnosis and treatment in children with similar symptoms.
Article
Endocrinology & Metabolism
Qiaoli Zhou, Jing Yu, Xuewen Yuan, Chunli Wang, Ziyang Zhu, Aihua Zhang, Wei Gu
Summary: Defects in the insulin receptor gene can result in severe insulin resistance conditions, such as Donohue syndrome and type A insulin resistance. This study focused on three Chinese children with INSR-related insulin resistance syndrome, identifying novel variants and assessing their impact through genetic and functional analyses. The research characterized the clinical features of the patients, highlighted the pathogenicity of one novel variant, and suggested the tolerability of another based on experimental data.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Endocrinology & Metabolism
Jun Hosoe, Yuki Kawashima-Sonoyama, Fuyuki Miya, Hiroko Kadowaki, Ken Suzuki, Takashi Kato, Fumiko Matsuzawa, Sei-Ichi Aikawa, Yukinori Okada, Tatsuhiko Tsunoda, Keiichi Hanaki, Susumu Kanzaki, Nobuhiro Shojima, Toshimasa Yamauchi, Takashi Kadowaki
Summary: This study identified genotype-phenotype correlations in FnIII domain variants of IGF1R, showing that disease-associated variants severely impair receptor activity and may lead to growth retardation. These findings could aid in the early diagnosis of patients with disease-associated IGF1R variants.
Article
Genetics & Heredity
Enrique Soto-Pedre, Moneeza K. Siddiqui, Cyrielle Maroteau, Adem Y. Dawed, Alex S. Doney, Colin N. A. Palmer, Ewan R. Pearson, Graham P. Leese
Summary: This study aimed to assess the impact of L-thyroxine on atrial fibrillation (AF) risk stratified by a variation in a candidate gene. It found that homozygous G/G genotype at the INSR locus (rs4804416) is associated with an increased risk of AF in patients on L-thyroxine therapy.
FRONTIERS IN GENETICS
(2021)
Article
Medicine, Research & Experimental
Yan Wang, Jianming Li, Qin Xiang, Liang Tang
Summary: This study performed a meta-analysis to examine the association between INSR and ISR-1 gene polymorphisms and the risk of essential hypertension (EH). The results showed that the INSR Rsal polymorphism was significantly associated with a decreased risk of EH, while the INSR Nsil and ISR-1 G972R polymorphisms were not significantly associated with EH risk. Subgroup analysis further indicated that the protective effect of the INSR Rsal polymorphism was observed only in Caucasian populations.
EXPERIMENTAL AND THERAPEUTIC MEDICINE
(2023)
Article
Genetics & Heredity
Hanan E. Shamseldin, Nada Derar, Hamad Alzaidan, Naif AlHathal, Abdullah Alfalah, Firdous Abdulwahab, Tariq Alzaid, Salim Alkeraye, Saud A. Alobaida, Fowzan S. Alkuraya
Summary: This article reports two consanguineous families with congenital ichthyosis, and identifies novel homozygous likely deleterious variants in PRSS8 through positional mapping and exome sequencing. The variant affecting canonical splice site was associated with reduced abundance of the normal transcript, while the missense variant altered a highly conserved residue. The phenotype observed in Prss8 knockout mice resembles the symptoms in human patients, suggesting a novel PRSS8-related ichthyosis disorder.
Article
Biochemistry & Molecular Biology
Fiona K. Jones, Alexander M. Phillips, Andrew R. Jones, Addolorata Pisconti
Summary: This study investigated the global landscape of SDC3-mediated regulation of signal transduction in muscle stem cells. The researchers found that SDC3 inhibits insulin receptor signaling and limits differentiation of MuSCs through its interaction with INSR/AKT/mTOR pathway. The study also suggests that SDC3 acts as a timekeeper to restrain MuSC response and prevent premature differentiation.
Article
Endocrinology & Metabolism
Xin Du, Yang Zhang, Qiuyue Zhao, Wen Qin, Guangyang Ma, Jilian Fu, Quan Zhang
Summary: This study found that the INSR (rs8101064) genetic variant has an impact on the hippocampal volume in Chinese patients with type 2 diabetes, with T allele carriers exhibiting smaller bilateral hippocampal volumes. The left hippocampal volume was shown to mediate the effect of the INSR (rs8101064) genetic variant on episodic memory in Chinese patients with type 2 diabetes, providing insight into the biological pathway through which this genetic variant affects memory in diabetes.
ACTA DIABETOLOGICA
(2021)
Article
Biochemistry & Molecular Biology
Rick I. Meijer, Eugene J. Barrett
Summary: The insulin receptor plays a crucial role in mediating tissue-specific insulin clearance in vivo. High-fat diet feeding may limit systemic hyperinsulinemia by increasing renal insulin clearance.
Article
Oncology
Ma Ting, Yu-e Miao, Feng-xiu Yu, Guang-cai Luo, Xin Xu, Li-xia Xiao, Guo-qing Zhang, Jin Chang
Summary: This study investigated the expression and correlation of INSR, IRS-1, and PD-L1 in NSCLC. The results showed that the expression of INSR and IRS-1 was significantly higher in NSCLC than in adjacent normal lung tissue. INSR expression was associated with the degree of pathological differentiation. PD-L1 expression was correlated with lymph node metastasis of NSCLC. Spearman correlation analysis revealed a significant positive correlation between PD-L1 and IRS-1 protein expression, but no correlation with INSR expression.
JOURNAL OF ONCOLOGY
(2022)
Article
Chemistry, Multidisciplinary
Hongru Li, Jinrui Zhang, Yan Shi, Guanfang Zhao, Haijiao Xu, Mingjun Cai, Jing Gao, Hongda Wang
Summary: This study uses super-resolution imaging to reveal the distribution changes of the insulin receptor during cell membrane activation. The findings show that insulin resistance inhibits receptor clustering and there is a highly co-localized relationship between the insulin receptor and the skeletal protein beta II-spectrin.
Article
Urology & Nephrology
Cristina Martin-Higueras, Sander F. Garrelfs, Jaap W. Groothoff, Dorrit E. Jacob, Shabbir H. Moochhala, Justine Bacchetta, Cecile Acquaviva, Marcin Zaniew, Przymyslaw Sikora, Bodo B. Beck, Bernd Hoppe
Summary: Outcome data for primary hyperoxaluria type 3 (PH3), considered a milder form of PH with lower risk of chronic kidney disease, are scarce. A retrospective analysis of the largest PH3 cohort to date revealed that PH3 is more similar to PH1 and PH2 than previously thought, presenting as early-onset, recurrent stone disease with potential kidney impairment.
KIDNEY INTERNATIONAL
(2021)
Article
Endocrinology & Metabolism
Karen K. Winer, Shangyuan Ye, Elise M. N. Ferre, Monica M. Schmitt, Bo Zhang, Gordon B. Cutler, Michail S. Lionakis
Summary: This study describes the clinical outcomes of the largest cohort of hypoparathyroid patients followed over 27 years and reveals significant differences in responses to PTH 1-34 injections vs conventional therapy among different etiologies of hypoparathyroidism. Postsurgical patients maintained lower urine calcium excretion during long-term PTH 1-34 therapy.
Review
Biochemistry & Molecular Biology
Adriana Mocanu, Roxana Alexandra Bogos, Laura Mihaela Trandafir, Elena Cojocaru, Ileana Ioniuc, Mirabela Alecsa, Vasile Valeriu Lupu, Lucian Miron, Tudor Ilie Lazaruc, Ancuta Lupu, Ingrith Crenguta Miron, Iuliana Magdalena Starcea
Summary: Sarcoidosis is a rare inflammatory disease of unknown cause that can affect multiple organ systems, including the kidneys. It is even rarer in children, with calcium metabolism-related renal manifestations. We present a case of a 10-year-old boy with advanced renal failure and hepatosplenomegaly, diagnosed with sarcoidosis through histopathological examination. This review highlights the importance of considering sarcoidosis in pediatric patients with kidney insufficiency or chronic kidney disease of unknown cause. This is the first study on extrapulmonary sarcoidosis in children from Romania.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Endocrinology & Metabolism
Aleksandra Rojek, Beata Wikiera, Anna Noczynska, Marek Niedziela
Summary: Mutations in the INSR gene cause rare inherited syndromes associated with insulin resistance. Leprechaunism is one such syndrome characterized by extreme insulin resistance, hyperinsulinemia, glucose metabolism abnormalities, and growth retardation. Other symptoms include lipoatrophy, dysmorphic facies, hypertrichosis, and hypertrophy of internal organs. The importance of this article is 8 out of 10.
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
(2023)
Article
Pediatrics
Yifan Zhang, Talia Gutman, Allison Tong, Jonathan C. Craig, Aditi Sinha, Allison Dart, Allison A. Eddy, Debbie S. Gipson, Detlef Bockenhauer, Hui-Kim Yap, Jaap Groothoff, Michael Zappitelli, Nicholas J.A.Webb, Stephen I. Alexander, Susan Furth, Susan Samuel, Tom D. Blydt-Hansen, Janis Dionne, Mini Michael, Scott E. Wenderfer, Wolfgang C. Winkelmayer, Steven McTaggart, Amanda Walker, Cortney T. Zimmerman, Angelique F. Ralph, Angela Ju, Laura J. James, Camilla S. Hanson
Summary: Children with chronic kidney disease and their caregivers face numerous barriers in accessing psychosocial and educational support, leading to feelings of disempowerment and isolation. Improved availability and access to psychosocial and educational interventions are needed to enhance the well-being and educational advancement of these children.
PEDIATRIC NEPHROLOGY
(2023)
Article
Immunology
L. M. Goff, K. Davies, W. M. Zelek, E. Kodosaki, O. Hakim, S. Lockhart, S. O'Rahilly, B. P. Morgan
Summary: Poor metabolic health and obesity in Black African populations contribute to increased susceptibility to disease, including COVID-19. Complement dysregulation has been linked to metabolic health and implicated as a driver of pathology; however, ethnic differences in complement have not been explored.
CLINICAL AND EXPERIMENTAL IMMUNOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Kanchan Phadwal, Qi-Yu Tang, Ineke Luijten, Jin-Feng Zhao, Brendan Corcoran, Robert K. Semple, Ian G. Ganley, Vicky E. MacRae
Summary: Arterial calcification, a characteristic of cardiovascular disease, shares similarities with skeletal mineralization but the cellular mechanisms are not fully understood. This study found that vascular smooth muscle cell (VSMC) calcification is associated with elongated mitochondria, increased reactive oxygen species production, and reduced mitophagy. The protein expressions of OPA1 and DRP1, key regulators of mitochondrial fusion and fission, respectively, were also altered. Additionally, p53-induced mitochondrial fusion was found to underlie cellular senescence in VSMC calcification.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Genetics & Heredity
Amira Kohil, Atiyeh M. Abdallah, Khalid Hussain, Mashael Al-Shafai
Summary: This study reviewed the genetic basis of Woodhouse-Sakati syndrome (WSS) and reported the genetic variants and clinical phenotypes associated with the disease. A total of 25 studies with 185 patients from 97 families in 12 different countries were included. Consanguineous marriages were common in the Greater Middle East region. Thirteen different DCAF17 variants were associated with WSS development, with the most frequent variant being a frameshift deletion variant unique to Arabs.
ORPHANET JOURNAL OF RARE DISEASES
(2023)
Article
Plant Sciences
Amna Shahzadi, Khalid Hussain, Khalid Nawaz, Zainab Abdul Rouf, Mehreen Javeria, Iqra Iqbal, Noshia Arshad, Huma Riaz, Rida Akram, Rida Zainab, Durre Nayab
Summary: Experiments were conducted to alleviate the negative effects of drought on two tomato varieties, Rio Grande and Yaqui, using plant growth regulators IAA and NAA. Drought stress significantly reduced growth, physiological attributes, and yield. Yaqui variety exhibited more severe effects from drought compared to Rio Grande. Antioxidant enzyme activities were increased under drought stress. Higher levels of drought stress (50%) had more adverse effects than lower levels (25%). Foliar applications of NAA and IAA effectively mitigated the negative effects of drought, with NAA being more effective. Overall, drought stress markedly decreased growth parameters, biochemical, physiological, and yield attributes in both tomato varieties, but foliar applications of NAA and IAA improved growth and yield under drought stress.
PAKISTAN JOURNAL OF BOTANY
(2023)
Article
Plant Sciences
Maida Khaliq, Khalid Nawaz, Khalid Hussain, Mehreen Javeria, Iqra Iqbal, Noshia Arshad, Ayesha Attique, Rida Zainab, M. O. H. A. M. M. A. D. Qurban
Summary: This experiment aimed to alleviate the detrimental effects of salt stress on two wheat varieties. The results showed that foliar application of sorbitol helped to ameliorate the negative impacts of salt stress on plants, and it also had beneficial effects under normal conditions.
PAKISTAN JOURNAL OF BOTANY
(2023)
Article
Urology & Nephrology
Elizabeth R. Wan, Daniela Iancu, Emma Ashton, Keith Siew, Barian Mohidin, Chih-Chien Sung, China Nagano, Detlef Bockenhauer, Shih-Hua Lin, Kandai Nozu, Stephen B. Walsh
Summary: It is difficult to clinically distinguish patients with inherited salt-losing tubulopathies (SLTs), such as Gitelman syndrome (GS) or Bartter syndrome (BS), from other causes of hypokalemia (LK), and genotyping is expensive. This study aimed to identify clinical characteristics that differentiate SLTs from LK. The findings showed that serum bicarbonate and urinary sodium excretion (FENa) could accurately differentiate SLTs from LK.
KIDNEY INTERNATIONAL REPORTS
(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
Endocrinology & Metabolism
Bonnie Grant, Gowri Ratnayake, Claire L. Williams, Anna Long, David J. Halsall, Robert K. Semple, James D. Cavenagh, William M. Drake, David S. Church
Summary: This case report describes a 67-year-old man with monoclonal gammopathy who developed disabling hypoglycaemia due to an insulin-binding paraprotein. Despite distal pancreatectomy, his symptoms persisted, but were successfully managed with plasma exchange and Lenalidomide treatment.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2023)
Review
Biochemistry & Molecular Biology
Daniel Turudic, Danka Pokrajac, Velibor Tasic, Dino Kasumovic, Zoltan Prohaszka, Danko Milosevic
Summary: In this study, eight cases of the homozygous MCPggaac haplotype, which is associated with the likelihood and severity of atypical hemolytic uremic syndrome, were presented. Complement blockade treatment can prevent disease relapse in children, but the duration of treatment remains uncertain.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Meeting Abstract
Transplantation
Marta Giaccari, Dieter Haffner, Franz Schaefer, Gema Ariceta, Detlef Bockenhauer, Francesco Emma
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2023)
Meeting Abstract
Pediatrics
Koenraad Veys, Katharina Hohenfellner, Detlef Bockenhauer, Patrick Niaudet, Rezan Topaloglu, Martine Besouw, Robert Novo, Dieter Haffner, Lars Pape, Elke Wuehl, Erik Harms, Atif Awan, Przemyslaw Sikora, Gema Ariceta, Elena Levtchenko
PEDIATRIC NEPHROLOGY
(2023)
Review
Chemistry, Multidisciplinary
Sultana Rahman, Abdul Haleem, Muhammad Siddiq, Muhammad Khalid Hussain, Samina Qamar, Safia Hameed, Muhammad Waris
Summary: The financial progress of a country depends heavily on the energy sector, which is crucial for the growth and development of various industries. The use of renewable resources is essential to overcome the energy crisis and reduce the negative impact of hydrocarbon fuels on the environment. This review focuses on the dyes used in dye-sensitized solar cells (DSSC) and discusses the progress in both inorganic and natural dyes.
Article
Pharmacology & Pharmacy
Muhammad Salman Rasool, Muhammad Akbar Hassan, Kauser Siddiqui, Faisal Mazhar, Akhtar Hussain Shar, Khalid Hussain Rind, Nadir Ali Rind, Fasih Uddin Ansari, Shahana Urooj Kazmi
Summary: Plasmid borne antibiotics resistance is a global threat in healthcare facilities. It can be stably inherited and horizontally transmitted among bacteria. Eliminating such resistance plasmids is crucial for controlling the spread of antibiotics resistance.
PAKISTAN JOURNAL OF PHARMACEUTICAL SCIENCES
(2023)
Article
Agriculture, Multidisciplinary
U. A. Khan, R. Qadri, M. T. Akram, M. A. Khan, N. Nisar, M. Azam, M. M. Khan, K. Hussain
Summary: This study investigates the physical and biochemical attributes of eight jujube genotypes at different ripening stages in the Cholistan desert of Pakistan. The results show significant variations in fruit traits and biochemical composition during the ripening stages, with the highest values observed at the fully ripe stage for most parameters. The genotypes Gola, Mehmood wali, and Dehli white performed well in the climatic conditions of Cholistan, while Dilbahar, Anokee, Karela, and Bahawalpur selection had high phenolic and flavonoid contents.
JOURNAL OF ANIMAL AND PLANT SCIENCES-JAPS
(2023)