Article
Endocrinology & Metabolism
Tiechao Ruan, Yihong Yang, Chuan Jiang, Gan Shen, Dingming Li, Ying Shen
Summary: This study identifies biallelic mutations of CEP70 as a novel genetic cause of male infertility, which could contribute to genetic counseling and diagnosis of male infertility.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Review
Biochemistry & Molecular Biology
Madalina Gabriela Barbu, Dana Claudia Thompson, Nicolae Suciu, Silviu Cristian Voinea, Dragos Cretoiu, Dragos Valentin Predescu
Summary: MicroRNAs play a significant role in male infertility, with their concentration in semen being linked to specific reproductive dysfunctions. Aberrant expression of certain microRNAs has been associated with male reproductive disorders. Additionally, idiopathic male infertility is connected to single nucleotide polymorphisms in microRNA binding sites.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Biochemistry & Molecular Biology
Jolanta Kwasniewska, Adrianna Wiktoria Bara
Summary: Cytogenetic approaches are important for evaluating the genetic effects of mutagenic treatments, and although they are time-consuming, they are essential for studying cytotoxic and genotoxic effects and environmental monitoring. The micronucleus test is an important method for studying genotoxicity in plants, and recent advancements have expanded the scope of cytogenetic techniques beyond the detection of chromosome aberrations. However, there is limited knowledge about micronuclei in plants compared to humans and animals.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Biochemistry & Molecular Biology
Maria-Anna Kyrgiafini, Zissis Mamuris
Summary: This systematic review investigates the differential expression of circRNAs in male infertility and their potential as candidate biomarkers. It was found that many circRNAs are deregulated in male infertility and their interactions with miRNAs play a crucial role in cellular processes and pathways. CircRNAs could also be used as biomarkers for screening patients before sperm retrieval, but there is a knowledge gap regarding their role in other subtypes of male infertility.
Review
Obstetrics & Gynecology
Magalie Boguenet, Pierre-Emmanuel Bouet, Andrew Spiers, Pascal Reynier, Pascale May-Panloup
Summary: Mitochondria in sperm play essential roles in energy production, redox equilibrium, calcium regulation, and apoptotic pathways, which are crucial for sperm motility, capacitation, acrosome reaction, and gametic fusion. Alterations in mitochondrial functions can lead to decline in sperm quality and fertility, while the relationship between mitochondrial genome and sperm quality is complex and heterogeneous. Understanding the role of mitochondria in male infertility is of great importance in the context of declining sperm quality.
HUMAN REPRODUCTION UPDATE
(2021)
Article
Cell Biology
Haiming Cao, Zi Wan, Fei Wang, Ziyin Liu, Xiaofeng Li, Jianquan Hou
Summary: The study identified 27 shared genes associated with spermatogenesis through reanalyzing gene expression databases and validation datasets. Among these genes, KIF2C and TEKT2 were found to be down-regulated in spermatogenesis and validated in multiple datasets. The study also established a TF-miRNA-target gene network, suggesting that KIF2C may play a role in spermatogenesis through interactions with miRNAs and TFs.
Article
Genetics & Heredity
Szilvia Ando, Katalin Koczok, Beata Bessenyei, Istvan Balogh, Aniko Ujfalusi
Summary: Chromosome abnormalities are crucial in reproductive failure. A study in infertile patients found higher rates of structural aberrations compared to a control group, suggesting a potential causal relationship between these abnormalities and infertility.
Article
Obstetrics & Gynecology
Kim Joana Westerich, Solveig Reinecke, Jana Emich, Margot Julia Wyrwoll, Birgit Stallmeyer, Matthias Meyer, Manon S. Oud, Daniela Fietz, Adrian Pilatz, Sabine Kliesch, Michal Reichman-Fried, Katsiaryna Tarbashevich, Tamara Limon, Martin Stehling, Corinna Friedrich, Frank Tuettelmann, Erez Raz
Summary: Combining patient genetic data with functional in vivo assays in zebrafish reveals a possible role for DND1 in human male fertility.
HUMAN REPRODUCTION
(2023)
Article
Endocrinology & Metabolism
Jianmin Xu, Qingling Yang, Wenhui Chen, Yuqing Jiang, Zhaoyang Shen, Huan Wang, Yingpu Sun
Summary: This study aimed to investigate the clinical and singleton newborn outcomes of ICSI-ET using diverse sperm sources (ejaculate, epididymis, and testis) in patients with Oligoasthenospermia, obstructive azoospermia (OA), or non-obstructive azoospermia (NOA). The study found that different sperm sources did not appear to influence clinical pregnancy rates, live birth rates, or newborn outcomes, except for a higher rate of low birth weight in singleton pregnancies using epididymal sperm in OA patients.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Dongdong Tang, Kuokuo Li, Hao Geng, Chuan Xu, Mingrong Lv, Yang Gao, Guanxiong Wang, Hui Yu, Zhongmei Shao, Qunshan Shen, Hui Jiang, Xiansheng Zhang, Xiaojin He, Yunxia Cao
Summary: This study identified novel variants in known pathogenic genes for NOA in 14.55% of the patients through whole-exome sequencing analysis of 55 unrelated idiopathic NOA patients with male infertility. These findings expand the variant spectrum of NOA patients and may contribute to future clinical genetic counseling.
REPRODUCTIVE BIOLOGY AND ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Dongdong Tang, Mingrong Lv, Yang Gao, Huiru Cheng, Kuokuo Li, Chuan Xu, Hao Geng, Guanjian Li, Qunshan Shen, Chao Wang, Xiaojin He, Yunxia Cao
Summary: This study identified novel homozygous variants of HFM1 responsible for spermatogenic failure and NOA, with a reduction in HFM1 expression levels in affected patients' testicular tissues. Additionally, microTESE did not aid in retrieving sperm from these patients.
REPRODUCTIVE BIOLOGY AND ENDOCRINOLOGY
(2021)
Article
Andrology
Neslihan Hekim, Mehmet Aydin, Sezgin Gunes, Ramazan Asci
Summary: This study evaluated the FSHB c.-211G>T and FSHR c.2039A>G variants in infertile men from Central Black Sea Region in Turkey and found that these variants are associated with male infertility risk.
Review
Biochemistry & Molecular Biology
Carla Petrella, Matteo Spaziani, Valerio D'Orazi, Luigi Tarani, Sergio Terracina, Francesca Tarani, Ginevra Micangeli, Christian Barbato, Antonio Minni, Antonio Greco, Andrea M. Isidori, Giampiero Ferraguti, Marco Fiore
Summary: Male infertility accounts for about 50% of infertility in couples, with the diagnosis and treatment process being crucial in understanding the biological origins of infertility and potential therapeutic interventions. The prokineticin system, particularly PROK2, plays a significant role in male infertility by offering new insights into testicular pathophysiology and potential therapeutic hypotheses.
Article
Environmental Sciences
Temidayo S. Omolaoye, Omar El Shahawy, Bongekile T. Skosana, Thomas Boillat, Tom Loney, Stefan S. du Plessis
Summary: Smoking has harmful effects on male fertility, including decreased sperm motility and concentration, increased abnormal sperm morphology, and genetic and epigenetic aberrations in spermatozoa. This review aims to provide evidence of smoking's mutagenic effect on sperm and its subsequent impact on male fertility.
ENVIRONMENTAL SCIENCE AND POLLUTION RESEARCH
(2022)
Article
Obstetrics & Gynecology
Yang Li, Yufan Wu, Jianteng Zhou, Huan Zhang, Yuanwei Zhang, Hui Ma, Xiaohua Jiang, Qinghua Shi
Summary: Mutations in the ZSWIM7 gene, particularly the homozygous frameshift mutation (c.231_232del), may lead to male infertility by affecting meiotic recombination processes. This study provides direct clinical evidence of the correlation between ZSWIM7 mutations and male infertility.
HUMAN REPRODUCTION
(2021)
Article
Genetics & Heredity
M. Inthu, Solomen F. D. Paul, N. Palanippan, Kumarasamy
CYTOLOGY AND GENETICS
(2020)
Article
Multidisciplinary Sciences
Juan C. Lopez-Alvarenga, Geetha Chittoor, Solomon F. D. Paul, Sobha Puppala, Vidya S. Farook, Sharon P. Fowler, Roy G. Resendez, Joselin Hernandez-Ruiz, Alvaro Diaz-Badillo, David Salazar, Doreen D. Garza, Donna M. Lehman, Srinivas Mummidi, Rector Arya, Christopher P. Jenkinson, Jane L. Lynch, Ralph A. DeFronzo, John Blangero, Daniel E. Hale, Ravindranath Duggirala
Review
Biotechnology & Applied Microbiology
Venkateswarlu Raavi, Venkatachalam Perumal, Solomon F. D. Paul
Summary: This review focuses on the recent developments of the γ-H2AX assay in radiation triage and biodosimetry, highlighting its importance in identifying exposed individuals in radiological emergencies and analyzing large samples efficiently.
MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH
(2021)
Article
Otorhinolaryngology
Ginila T. Raju, L. V. K. S. Bhaskar, Venkatesh Babu Gurramkonda, Syed Altaf Hussain, Solomon F. D. Paul
Summary: The study did not find an association between noncoding variants near the FGFR2 gene and NSCL/P, but some haplotype analysis showed significant undertransmission. Further studies with larger sample sizes are needed to confirm any potential associations.
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
(2021)
Article
Pharmacology & Pharmacy
Ravi Ramalingam, Harpreet Kaur, Julius Xavier Scott, Latha M. Sneha, Ganesh Prasad Arun Kumar, Arathi Srinivasan, Solomon F. D. Paul
Summary: The study revealed a significant association between NUDT15 (c.415C>T) and SLC19A1 (c.80G>A) genes and treatment-related adverse effects (TRAEs), indicating their important role in 6-MP metabolism. Further investigation into other variants in associated pathways and factors that can impact 6-MP metabolism is warranted.
Article
Medicine, General & Internal
Latha Sneha Magatha, Julius Xavier Scott, Gayathri Subramaniam, Thirugnanasambandan Chandrasekaran, Solomon Franklin Durairaj Paul, Teena Koshy
Summary: This study evaluated the cytogenetic profile of pediatric ALL patients and found a high frequency of chromosomal abnormalities, with RUNX1 gain being the most common abnormality.
MEDICAL PRINCIPLES AND PRACTICE
(2021)
Article
Oncology
Ravi Ramalingam, Harpreet Kaur, Julius Xavier Scott, Latha M. Sneha, Ganeshprasad Arunkumar, Arathi Srinivasan, Solomon F. D. Paul
Summary: Pediatric acute lymphoblastic leukemia (pALL) patients have better overall survival, with methotrexate (MTX) being an effective drug in their treatment. This study evaluated the association of genetic polymorphisms in genes involved in MTX metabolism and cytogenetic aberrations with treatment-related adverse effects (TRAEs). The results showed a significant association between a variation in the SLC19A1 gene and TRAEs, suggesting potential for better patient management through genetic testing.
CANCER CHEMOTHERAPY AND PHARMACOLOGY
(2022)
Article
Biology
Haritha Mallina, Ramprasad Elumalai, Solomon F. D. Paul, C. George Priya Doss, S. Udhaya Kumar, Gnanasambandan Ramanathan
Summary: The study demonstrated a significant relationship between TAC dose and C/D ratio, including both non-toxicity and toxicity groups. However, no apparent correlation was observed between ABCB1 gene polymorphism and renal transplantation.
COMPUTERS IN BIOLOGY AND MEDICINE
(2021)
Letter
Psychology, Developmental
Udayakumar Narasimhan, Abhinayaa Janakiraman, Dedeepya Puskur, Fatima Shirly Anitha, Solomon Franklin Durairaj Paul, Teena Koshy
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2023)
Article
Genetics & Heredity
G. Gowtham Kumar, Solomon F. D. Paul, Chirag Molia, M. Manickavasagam, R. Ramya, G. Usha Rani, Nalini Ganesan, F. Andrea Mary
Summary: The study revealed significant associations of the rs743572 and rs10046 polymorphisms with ovarian cancer risk in South Indian women. The rs743572 polymorphism showed an increase in CC genotype and C allele frequency, while the rs10046 polymorphism showed an increase in CT genotype and T allele frequency in ovarian cancer patients. Additionally, both polymorphisms were associated with clinical characteristics of ovarian cancer.
Article
Multidisciplinary Sciences
J. Vijayalakshmi, Rajesh Kumar Chaurasia, K. Satish Srinivas, K. Vijayalakshmi, Solomon F. D. Paul, N. N. Bhat, B. K. Sapra
Summary: In the modern society, the application of radiation has increased significantly. Assessment of radiation exposure is crucial for regulatory decision and medical management. Cytogenetic changes, specifically dicentric chromosomal aberration (DCA) and micronucleus, have been widely used for biological dose estimation.
Review
Endocrinology & Metabolism
Deepika Ramu, Selvaraj Ramaswamy, Suresh Rao, Solomon F. D. Paul
Summary: The present study aimed to estimate the global burden of LADA among diabetic individuals through a systematic review and meta-analysis. The overall prevalence of LADA was found to be 8.9%, with Bahrain having the highest prevalence and United Arab Emirates having the lowest. The study also revealed regional variations in LADA prevalence.
Article
Biochemistry & Molecular Biology
G. Gowtham Kumar, Solomon Franklin Durairaj Paul, Jovita Martin, M. Manickavasagam, Shirley Sundersingh, Nalini Ganesan, R. Ramya, G. Usha Rani, Francis Andrea Mary
Summary: This study revealed that mutations in RAD51 and XRCC2 genes may be associated with ovarian cancer risk in the South Indian population, with specific alleles in RAD51 (rs1801320 and rs1801321) and XRCC2 (rs3218536) showing a significant linkage to increased OCa risk. Further research with larger sample sizes and diverse populations is necessary to validate these findings.
MOLECULAR BIOLOGY REPORTS
(2021)
Article
Neurosciences
Narayani Subramanian, Srishti Ramanathan, Solomon Franklin Durairaj Paul, Vettriselvi Venkatesan, Teena Koshy
NEUROSCIENCE LETTERS
(2020)
Article
Genetics & Heredity
Ginila T. Raju, L. V. K. S. Bhaskar, Jyotsna Murthy, Solomon F. D. Paul