Article
Biotechnology & Applied Microbiology
Shun-Yun Cheng, Yongwen Luo, Anneliese Malachi, Jihye Ko, Qin Su, Jun Xie, Bo Tian, Haijiang Lin, Xiao Ke, Qiang Zheng, Phillip W. L. Tai, Guangping Gao, Claudio Punzo
Summary: The research shows that treating wet age-related macular degeneration with rAAV-mediated expression of anti-VEGF drugs may be safe, but viral load needs to be adjusted based on the tropism of the serotype and the expression pattern of the promoter.
HUMAN GENE THERAPY
(2021)
Article
Biotechnology & Applied Microbiology
Jun-Song Ren, Wen Bai, Jing-Juan Ding, Ya Zhao, Su-Yu Wang, Xi Chen, Qin Jiang
Summary: In this study, it was found that PIWIL4 is upregulated in a laser-induced CNV model and regulates angiogenesis. Differentially expressed piRNAs in the CNV model were shown to potentially regulate angiogenesis through bioinformatics analysis. Overall, PIWIL4 may serve as a novel target for blocking pathological choroidal neovascularization, and the study of the PIWI-piRNAs pathway in wAMD highlights its broad function in somatic cells.
Review
Biochemistry & Molecular Biology
Reem H. ElSheikh, Muhammad Z. Chauhan, Ahmed B. Sallam
Summary: Age-related macular degeneration (AMD) is a leading cause of blindness in the elderly population, with neovascular AMD (nAMD) being the main contributor to visual loss. Currently approved anti-VEGF agents have shown favorable prognosis for nAMD but come with a substantial financial burden for patients and the healthcare system due to their high cost and the need for repeated treatments and visits. Emerging therapies aim to prolong treatment intervals and introduce new modalities for better results.
Article
Microbiology
Daniella van der Walt, Emma T. Steenkamp, Brenda D. Wingfield, P. Markus Wilken
Summary: Hybridization is an important driver of evolution and adaptation, and closely related species of Ceratocystis have been shown to hybridize. However, previous studies using self-sterile strains and a laboratory-generated sterile isolate type may have impacted conclusions. This study successfully produced hybrids between self-fertile isolates of Ceratocystis species and provided evidence of biparental mitochondrial inheritance. Further research is needed to investigate the role of hybridization in the speciation of Ceratocystis species and the effect of mitochondrial conflict.
Article
Ophthalmology
Dana Barequet, Reut Shor, Ori Segal, Eran Greenbaum, Omer Trivizki, Anat Loewenstein, Gilad Rabina
Summary: The study evaluated the impact of changes in treatment patterns during the COVID-19 pandemic on BCVA in previously treated nAMD patients. The results showed that patients received significantly fewer anti-VEGF injections during COVID-19, but this did not significantly affect the BCVA outcomes.
ACTA OPHTHALMOLOGICA
(2023)
Article
Agriculture, Dairy & Animal Science
Yoya Vashi, Ankit Magotra, Dipjyoti Kalita, Santanu Banik, Nihar R. Sahoo, Sanjay K. Gupta, Soumen Naskar
Summary: Improvement in litter traits is crucial for increasing economic income of pig farmers in developing countries. This study investigated the relationship between various genes and litter traits in indigenous pigs in India, revealing that the FSH beta gene may be a potential genetic marker for litter traits in these breeds.
REPRODUCTION IN DOMESTIC ANIMALS
(2021)
Article
Ophthalmology
Reut Shor, Ori Segal, Michael Mimouni, Eran Greenbaum, Dinah Zur, Omer Trivizki, Shulamit Schwartz, Anat Loewenstein, Michaella Goldstein, Gilad Rabina
Summary: The delayed care secondary to COVID-19 pandemic lockdowns does not have a significant impact on BCVA in patients with nAMD. Best-corrected visual acuity, older age, and lower number of yearly anti-VEGF injections are predictors for decreased BCVA.
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES
(2022)
Article
Pharmacology & Pharmacy
Puneet Sharma, Sachin Mittal
Summary: This review highlights the progress and limitations of current AMD therapies, as well as the potential of nanotechnology for improving delivery and reducing administration frequency. The translation of preclinical work to clinical outcomes in AMD is still a challenge, but further research into understanding the biology and utilizing advanced nanotechnology could lead to exciting treatment options.
EXPERT OPINION ON DRUG DELIVERY
(2021)
Article
Biochemistry & Molecular Biology
Flavie Courtaut, Alessandra Scagliarini, Virginie Aires, Clarisse Cornebise, Jean-Paul Pais de Barros, Celine Olmiere, Dominique Delmas
Summary: The study explores potential targets for combating age-related macular degeneration and finds that a new nutritional supplement, Resvega, may effectively inhibit VEGF secretion, making it a promising complementary treatment against AMD.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Agriculture, Dairy & Animal Science
V. Vigolo, M. Franzoi, F. Cendron, G. Salvadore, M. Penasa, M. Cassandro, M. De Marchi
Summary: This study compared different methods and technical engagement for identifying the A1 and A2 variants of 0-casein in milk. The findings showed that automated DNA extraction and chromatoallele-specific PCR techniques are fast and reliable options.
JOURNAL OF DAIRY SCIENCE
(2022)
Article
Medicine, General & Internal
Jae-Gon Kim, Yu Cheol Kim, Kyung Tae Kang
Summary: This study examines the impact of delayed intravitreal anti-VEGF therapy on the prognosis of nAMD patients due to the COVID-19 pandemic. The results indicate that delayed treatment worsened BCVA and residual subretinal fluid. Baseline subretinal fluid can reduce the degree of fluid height deterioration.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Medicine, General & Internal
Ana Florica Chis, Ruxandra-Mioara Rajnoveanu, Milena Adina Man, Doina Adina Todea, Bogdan Augustin Chis, Bogdan Stancu, Ioan Anton Arghir, Teodora Gabriela Alexescu, Carmen Monica Pop
Summary: In this study, higher VEGF serum levels were associated with COPD and a T allele of VEGF +936C/T gene polymorphism was linked to COPD and airway obstruction in a Romanian population.
MEDICINA-LITHUANIA
(2021)
Article
Multidisciplinary Sciences
Bushra A. Kanaan, Mushtak T. S. Al-Ouqaili, Rafal M. Murshid
Summary: This study aimed to establish the frequency and pattern of chromosomal abnormalities in women with primary and secondary amenorrhea and detect genetic changes in specific genotypes. The results highlighted the importance of cytogenetic analysis for determining the genetic basis of amenorrhea and suggested genotyping for women with normal karyotype and high FSH serum levels for accurate diagnosis and appropriate management.
Article
Otorhinolaryngology
Kumud Nigam, Shalini Gupta, Om Prakash Gupta, Ratnesh Kumar Srivastav, Saurabh Pratap Singh, Somali Sanyal
Summary: The study showed that the NAT1 gene polymorphism is protective against oral diseases, while NAT2 gene polymorphism, especially the TT genotype, increases the risk of OSMF and leukoplakia. On the other hand, the CC genotype for NAT2 T>C polymorphism increases the risk of OSMF.
EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY
(2021)
Article
Neurosciences
Bodda S. B. Salomi, Raja Solomon, Vijay Prakash Turaka, Sanjith Aaron, Christhunesa S. Christudass
Summary: This study indicates that in the Indian population, MTHFR rs1801133, KNG rs710446, FXII rs1801020, SERPINC1 rs2227589, CYP4V2 rs13146272, and FXIII V34L may be significant risk factors for cryptogenic IS in the young. Additionally, ethnicity and gender play a significant role in these associations.
Article
Genetics & Heredity
Deepti Saxena, Amita Moirangthem, Arya Shambhavi, Shubha R. Phadke
Summary: Koolen-de Vries syndrome is a recurrent microdeletion syndrome caused by deletion of a 400-600 kb region at 17q21.31, leading to typical facial features, varying degrees of intellectual disability, seizures, and behavioral issues. This is the first case report of Koolen-de Vries syndrome from India.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Genetics & Heredity
Suzena Masih, Amita Moirangthem, Shubha R. Phadke
Summary: Peroxisome biogenesis disorders are a group of autosomal recessive disorders caused by impaired peroxisome assembly, resulting in abnormal formation of functional peroxisomes. Genetic mutations in the PEX gene family lead to diverse disease manifestations, ranging from severe neurologic symptoms in infants to progressive degenerative diseases in adults. Specific variations in PEX7 are associated with different phenotypes, including severe rhizomelic chondrodysplasia punctata type 1 and milder allelic disorders such as PBD 9B, sometimes presenting with similar symptoms to classic Refsum disease. This variability highlights the importance of considering PBD 9B in children with neurodevelopmental abnormalities, especially if they also have congenital cataract.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Pediatrics
Haseena Sait, Harikrishnan Gangadharan, Aviral Gupta, Amita Aggarwal, Manoj Jain, Shubha R. Phadke
Summary: This case report describes a classic phenotype of autoimmune, skeletal, and neurological abnormalities in spondyloenchondrodysplasia with immune dysregulation in an Indian patient, with a novel variant identified through Sanger sequencing. The rare coexistence of IgA nephropathy in monogenic lupus is also highlighted. Management included antihypertensive agents and symptomatic therapy, leading to complete resolution of glomerulonephritis and normalization of blood pressure upon follow-up.
INDIAN JOURNAL OF PEDIATRICS
(2021)
Article
Genetics & Heredity
Prince Jacob, Gandham Sri Lakshmi Bhavani, Hitesh Shah, Chelna Galada, Sheela Nampoothiri, Nutan Kamath, Shubha R. Phadke, Mamta Muranjan, Chaitanya A. Datar, Anju Shukla, Katta M. Girisha
Summary: Pseudoachondroplasia (PSACH) is characterized by short limbs, joint laxity, excessive lumbar lordosis, and delayed ossification of the epiphyses, with disease-causing variants in the COMP gene confirming the molecular diagnosis. New variants were identified, including some unique to the Indian ethnicity, reinforcing the well-known genotype-phenotype correlation in PSACH.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Genetics & Heredity
Neerja Gupta, Ravneet Kaur, Shubha Phadke, Pankaj Sharma, Sheela Nampoothiri, Deepti Saxena, Madhulika Kabra
Summary: This study on Asian Indian patients with monosomy 1p36 reveals phenotypic similarities among the patients, widening the clinical spectrum in a diverse population.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Genetics & Heredity
Haseena Sait, Amita Moirangthem, Vinita Agrawal, Shubha R. Phadke
Summary: Autosomal recessive spinocerebellar ataxia-20 is a rare disorder characterized by distinctive coarse facies, intellectual disability, and cerebellar ataxia, caused by biallelic variants in the SNX14 gene. This study reports a novel case with confirmed pathogenic variants in SNX14 gene through genetic sequencing and expression analysis. Electron microscopy of skin fibroblasts revealed abnormal cytoplasmic vacuoles, providing further insights into the cellular pathology of the disease.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Pediatrics
Haseena Sait, Lokesh Sharma, Preeti Dabadghao, Shubha R. Phadke
Summary: Congenital hyperinsulinemia is a genetically and clinically heterogenous disorder with complex molecular mechanisms, highlighting the importance of genetic counseling for families.
INDIAN JOURNAL OF PEDIATRICS
(2022)
Article
Hematology
Neha Agrawal, Ravi Kumar, Suzena Masih, Priyanka Srivastava, Parshw Singh, Sushil Kumar Jaiswal, Amita Moirangthem, Deepti Saxena, Shubha R. Phadke, Kausik Mandal
Summary: This study describes the mutational spectrum of severe hemophilia B patients in India, revealing 27 different mutations in 30 probands, including 20 known and 7 novel variants. The research also explores the presence of inhibitory antibodies in two patients.
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
(2022)
Article
Genetics & Heredity
Ranjana Mishra, Samarth Kulshreshtha, Kausik Mandal, Ashok Khurana, Dan Diego-Alvarez, Laura Pradas, Renu Saxena, Shubha Phadke, Amita Moirangthem, Suzena Masih, Seema Sud, Ishwar Chander Verma, Ratna Dua Puri
Summary: Pontocerebellar hypoplasia (PCH) type 12 is a rare, perinatal lethal neurodegenerative genetic disorder caused by biallelic mutations in the COASY gene. This study described the clinical and neuroradiological characteristics of nine affected fetuses/neonates from five families with a common COASY: c.1486-3C>G biallelic variant. The common antenatal phenotype was cerebellar hypoplasia, and the postnatal findings included microcephaly, arthrogryposis, and intrauterine growth restriction. Novel findings such as corpus callosum agenesis and simplified gyral pattern were reported in this study. The allele frequency of the COASY: c.1486-3C>G variant was 0.62% in the available Asian Indian database.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Genetics & Heredity
Kruti Varshney, Sanjeeva Ghanti Narayanachar, Katta M. Girisha, Gandham SriLakshmi Bhavani, Dhanyalakshmi Narayanan, Shubha Phadke, Sheela Nampoothiri, Gautham Arunachal Udupi, Palany Raghupathy, Mohandas Nair, Thenral S. Geetha, Meenakshi Bhat
Summary: This study describes a large cohort from India, providing clinical and molecular insights into these rare 'Golgipathies'.
JOURNAL OF MEDICAL GENETICS
(2023)
Review
Genetics & Heredity
Benjamin D. Solomon, Margaret P. Adam, Chin-To Fong, Katta M. Girisha, Judith G. Hall, Anna C. E. Hurst, Peter M. Krawitz, Shahida Moosa, Shubha R. Phadke, Cedrik Tekendo-Ngongang, Tara L. Wenger
Summary: The field of clinical genetics and genomics is evolving with milestones like the sequencing of the human genome, advances in sequencing technologies, and the introduction of artificial intelligence. The practice of dysmorphology, the study of abnormal development of tissue form, has also been influenced by technological advances and trends in biomedicine. To explore the future of dysmorphology, a group of clinical geneticists have provided insights about its development over the next few decades.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Genetics & Heredity
Haseena Sait, Arya Shambhavi, Manmohan Pandey, Deepak Ravichandran, Shubha R. Phadke
Summary: FIG4 related leukoencephalopathy is a rare disorder characterized by motor neuron involvement, dystonia, intellectual disability, bulbar symptoms, and cerebellar atrophy. This study presents a case of a 7-year-old girl with classic clinical features of FIG4 related leukoencephalopathy, confirmed by genetic analysis and cellular observations.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Pediatrics
Arya Shambhavi, Amita Moirangthem, Manmohan Pandey, Shubha Phadke
Summary: FAR1 gene is crucial for the conversion of fatty acyl CoAs to fatty alcohols, which is associated with various disorders including cataracts, spastic paraparesis, and speech delay. The authors identified a novel mutation and performed in silico docking analysis on the mutant protein.
INDIAN JOURNAL OF PEDIATRICS
(2023)
Article
Genetics & Heredity
Deepti Saxena, Somya Srivastava, Rajesh K. K. Maurya, Amita Moirangthem, Kausik Mandal, Shubha Phadke
Summary: Genetic diseases are a significant contributor to neonatal and childhood mortality. Exome sequencing (ES) of parents can be used to screen for carrier status in couples with a history of demise of previous children. This study showed that targeted parental ES can provide potential diagnoses for families with previous offspring affected by genetic disorders, and reanalysis of raw data can lead to reclassification of variants, improving diagnostic accuracy.
PRENATAL DIAGNOSIS
(2023)
Article
Genetics & Heredity
Amit K. Tiwari, Varunvenkat M. Srinivasan, Shubha R. Phadke, Deepti Saxena
Summary: We report the third case of FADS caused by biallelic DOK7 variants, which strengthens the association between DOK7 and this lethal phenotype and also highlights the lack of genotype-phenotype correlation.
Article
Medicine, Research & Experimental
Bincy Varghese, Sreeranjini Babu, Aishwarya Jala, Panchanan Das, Rajesh Raju, Roshan M. Borkar, Ramu Adela
Summary: Through integrating next-generation sequencing and metabolomics multi-omics analysis of placenta, this study identified differentially expressed miRNAs, their target genes, altered metabolites, and metabolic pathways in gestational hypertension (GH) patients. The findings obtained from this study may contribute to further understanding of the molecular pathways associated with GH and the evaluation of prognostic markers.
ARCHIVES OF MEDICAL RESEARCH
(2024)
