-
Genetic analysis of a child with severe intellectual disability caused by a novel variant in the FERM domain of the FRMPD4 protein J. Genet. (IF 1.5) Pub Date : 2024-03-05 Hua Pan, Feng Zhu, Kun Chen, Yin Zhang
-
Multiple mutations in BADH2 gene reveal the novel fragrance allele in indica rice (Oryza sativa L.) J. Genet. (IF 1.5) Pub Date : 2024-03-01 Sonali Chandanshive, Sarika Mathure, Altafhusain Nadaf
-
Genomic determinants of antibody response to a typhoid vaccine in Indian recipients J. Genet. (IF 1.5) Pub Date : 2024-02-28 Vijay Laxmi Roy, Partha Pratim Majumder
-
Estimation of genetic diversity of the exotic Indian trout populations by using microsatellite markers J. Genet. (IF 1.5) Pub Date : 2024-02-05 Walter Devaa, Vimal Panneerselvam, Ramesh Uthandakalaipandian
-
Characters of the MOCA family in wheat and TaMOCA1 function in salt stress tolerance J. Genet. (IF 1.5) Pub Date : 2024-02-03 Yuxiang Qin, Ping Cui, Bao Zhang, Yuning Wang
-
Efficient assembly of a synthetic attenuated SARS-CoV-2 genome in Saccharomyces cerevisiae using multi-copy yeast vectors J. Genet. (IF 1.5) Pub Date : 2024-02-01
Abstract Saccharomyces cerevisiae has been demonstrated to be an excellent platform for the multi-fragment assembly of large DNA constructs through its powerful homologous recombination ability. These assemblies have invariably used the stable centromeric single copy vectors. However, many applications of these assembled genomes would benefit from assembly in a higher copy number vector for improved
-
Role of VDR gene polymorphisms and vitamin D levels in normal and overweight patients with PCOS J. Genet. (IF 1.5) Pub Date : 2024-01-17
Abstract Polycystic ovary syndrome (PCOS) is one of the most common endocrine diseases in women. In recent years, the effects of vitamin D receptor (VDR) gene variants and VitD3 levels on clinical features of PCOS have been frequently described. In this study, we aimed to determine the relationship between VDR ApaI, TaqI and Cdx2 gene variants and VitD3 levels in PCOS patients. Patients were divided
-
Genomewide architecture of adaptation in experimentally evolved Drosophila characterized by widespread pleiotropy J. Genet. (IF 1.5) Pub Date : 2024-01-17 Zachary S. Greenspan, Thomas T. Barter, Mark A. Phillips, José M. Ranz, Michael R. Rose, Laurence D. Mueller
-
Transferability of Nikita and Sukkula retrotransposons in domestic goose (Anser anser domesticus) genome J. Genet. (IF 1.5) Pub Date : 2024-01-12
Abstract This article aimed to detect the existence of barley-specific Nikita and Sukkula retrotransposons in domestic geese samples and to evaluate the evolutionary relationships between these and other transposons belonging to the family Anatidae. Inter-retrotransposon-amplified polymorphism-polymerase chain reaction (IRAP-PCR) method was performed for these retrotransposons movements in three diverse
-
Two novel heterozygous ADCY10 variants identified in Chinese pediatric patients with absorptive hypercalciuria: case report and literature review J. Genet. (IF 1.5) Pub Date : 2024-01-10 Yucheng Ge, Yukun Liu, Ruichao Zhan, Zhenqiang Zhao, Wenying Wang, Ye Tian
-
FSTest: an efficient tool for cross-population fixation index estimation on variant call format files J. Genet. (IF 1.5) Pub Date : 2024-01-05
Abstract Fixation index (Fst) statistics provide critical insights into evolutionary processes affecting the structure of genetic variation within and among populations. Fst statistics have been widely applied in population and evolutionary genetics to identify genomic regions targeted by selection pressures. The FSTest 1.3 software was developed to estimate four Fst statistics of Hudson, Weir and
-
Molecular data reveals a new genus of blindsnakes within Asiatyphlopinae from India J. Genet. (IF 1.5) Pub Date : 2024-01-02 Chinta Sidharthan, Pragyadeep Roy, K. Praveen Karanth
-
The effect of modification of DNA interference on myostatin gene expression in mice J. Genet. (IF 1.5) Pub Date : 2023-12-22 Mitra Riasi, Sina Mozaffari-Jovin, Ali Javadmanesh
-
Genetic diversity analysis of volunteer wheat based on SSR markers J. Genet. (IF 1.5) Pub Date : 2023-11-25 Wangcang Su, Hongle Xu, Lanlan Sun, Chuantao Lu, Renhai Wu
-
Why are you hitting yourself? Whole-exome sequencing diagnosis of monogenic autoimmunity J. Genet. (IF 1.5) Pub Date : 2023-11-25 Lina M. Castano-Jaramillo, Francisco Rivas Larrauri, Selma C. Scheffler-Mendoza, Alonso Gutierrez-Hernandez, Juan Carlos Bustamante Ogando, Paulina Colin, Margarita Ortega Cisneros, Sandra Rajme-López, Edgar Alejandro Medina-Torres, Laura Berron Ruiz, Ana Luisa Rodriguez-Lozano, Sara Elva Espinosa Padilla, Marco Antonio Yamazaki-Nakashimada, Saul O. Lugo Reyes
-
olf413, a putative octopamine biosynthesis pathway gene is required for negative geotactic motor function in Drosophila melanogaster J. Genet. (IF 1.5) Pub Date : 2023-11-16 Ravindrakumar Ramya, Baragur Venkatanarayanasetty Shyamala
-
Exploring the influences of geographical variation on sequence signatures in the human gut microbiome J. Genet. (IF 1.5) Pub Date : 2023-11-16 Gauraw Kumar, Punyasloke Bhadury
-
The formate dehydrogenase enhances aluminum tolerance of tobacco J. Genet. (IF 1.5) Pub Date : 2023-10-11 Yonghong Xie, Yunmin Wei, Rongrong Han, Shitian Yu, Hui Xu, Caode Jiang, Yongxiong Yu
-
AICRF: ancestry inference of admixed population with deep conditional random field J. Genet. (IF 1.5) Pub Date : 2023-10-06 Farhad Alizadeh, Hamid Jazayeriy, Omid Jazayeri, Fatemeh Vafaee
-
Mendel did not study common, naturally occurring phenotypes J. Genet. (IF 1.5) Pub Date : 2023-09-20 David Curtis
Modern genetics research increasingly reveals that what is commonly termed Mendelian genetics occurs rarely in nature, especially with regard to the effects that genetic variation exerts on human characteristics. It has been argued that an inappropriate emphasis on Mendel’s work could distort the public understanding of genetics and indeed in the UK Mendel has been completely dropped from the official
-
Serum exosomal hsa_circRNA_0001842 is the potential biomarker for diagnosing lower limb vascular disease in type 2 diabetes mellitus J. Genet. (IF 1.5) Pub Date : 2023-09-16 Qian-Qian Liu, Xing-Hui Liu, Hai-Ming Wang, Li-Min Xu, Xiao-Jing Zhao, Shu-Guang Han, Zuo-Hua Lu
-
Indigenous population genome databases for India and South Asia: emerging need for health and social applications J. Genet. (IF 1.5) Pub Date : 2023-09-08 Dhavendra Kumar
-
A novel METTL5 variant disrupting a donor splice site leads to primary microcephaly-related intellectual disability in an Iranian family: clinical features and literature review J. Genet. (IF 1.5) Pub Date : 2023-09-08 Fatemeh Shakarami, Zahra Nouri, Hossein Khanahmad, Mohamadreza Ghazavi, Mohammad Amin Tabatabaiefar
-
Molecular characterization of de novo ring chromosome 21 in a child with seizures, growth retardation, and multiple congenital anomalies J. Genet. (IF 1.5) Pub Date : 2023-08-30 Prafulla S. Ambulkar, Thomas Liehr, Manish Jain, Jwalant Waghmare, Nitin Gangane, Pratibha Narang, Asoke K. Pal
-
Population genetic analysis and scans for adaptation and contemporary selection footprints provide genomic insight into aus, indica and japonica rice cultivars diversification J. Genet. (IF 1.5) Pub Date : 2023-08-29 Seyed Milad Vahedi, Moslem Momen, Seyedeh Fatemeh Mousavi, Mohammad Hossein Banabazi, Mohammad Saeed Hasanvandi, Madhav Bhatta, Mahmoud Amiri Roudbar, Siavash Salek Ardestani
-
In silico genotyping of blood group alleles using WGS data: a comparative study of the Orang Asli in Peninsular Malaysia with major global populations J. Genet. (IF 1.5) Pub Date : 2023-08-29 Mercy Rophina, Teh Lay Kek, Sridhar Sivasubbu, Vinod Scaria, Mohd Zaki Salleh
-
Overexpression of microRNA-130a-3p suppresses glucose lipid levels and oxidative damage in diabetic retinopathy mice via modulating cell division cycle 42 J. Genet. (IF 1.5) Pub Date : 2023-08-23 Hui Wang, Xu Dong, Jing Zhou, Caoyu Sun
-
Mutation spectrum and enzyme profiling of G6PD deficiency in neonates of north India: a prospective study J. Genet. (IF 1.5) Pub Date : 2023-08-07 Upasana Bhattacharyya, Preeti Deswal, Sunil Kumar Polipalli, Diksha Sharma, Manpreet Kaur, Seema Kapoor, B. K. Thelma
-
A novel missense variant in EIF2B5 identified in a consanguineous Iranian family with vanishing white matter disease and a brief review of the literature J. Genet. (IF 1.5) Pub Date : 2023-08-07 Parisa Nourmohammadi, Mostafa Asadollahi, Arezou Karamzade, Yeganeh Eshaghkhani, Meisam Babaei, Zahra Golchehre, Seyedeh Roksana Taheri, Sepideh Hasani, Mahdieh Taghizadeh, Mohammad Keramatipour
-
Comparative genetic diversity and structure of Rhus gall aphid Schlechtendalia chinensis and its host plant Rhus chinensis J. Genet. (IF 1.5) Pub Date : 2023-07-25 Zhumei Ren, Hongli He, Yang Zhang, Yujie Xu, Xu Su
-
A homozygous missense variant in PTPN2 with early-onset Crohn’s disease, growth failure and dysmorphic features in an infant: a case report J. Genet. (IF 1.5) Pub Date : 2023-07-15 JOHNNY AWWAD, MIRNA SOUAID, TONY YAMMINE, ALAIN CHEBLY, NABIHA SALEM, RITA ESBER, CHANTAL FARRA
-
Genome sequencing and characterization of microsatellite markers of Pterocarpus santalinus L.f.: an economically important endangered tree of Eastern Ghats, India J. Genet. (IF 1.5) Pub Date : 2023-07-14 M. V. Sneha, A. H. Madhushree, S. Tapas Ranjan, B. N. Divakara, P. Mohana Kumara, H. R. Prabuddha
-
Codon usage bias analysis of mitochondrial protein-coding genes in 12 species of Candida J. Genet. (IF 1.5) Pub Date : 2023-07-14 Fen Wang, Nan Zhang, Chunling Zhao, Zhangyong Song, Caiyan Xin
-
Detecting disease association with rare variants using weighted entropy J. Genet. (IF 1.5) Pub Date : 2023-07-12 Yu-Mei Li, Yang Xiang
-
Diversification of three TaSOS1 genes and their roles in sodium exclusion in bread wheat (Triticum aestivum L.) J. Genet. (IF 1.5) Pub Date : 2023-06-14 Zhenxian Gao, Wenlong Yang, Qiao Cao, Xinmei Gao, Dongcheng Liu, Aimin Zhang
-
Prevalence of congenital sucrase-isomaltase deficiency in Turkey may be much higher than the estimates J. Genet. (IF 1.5) Pub Date : 2023-06-01 Didem Gulcu Taskin, Hasret Ayyildiz Civan, Emine Ergül SarI, Cansu Altuntaş, Melike Ersoy, Tolga Tuncel, Hüseyin Onay, Ayşe Selimoğlu
Congenital sucrase–isomaltase deficiency (CSID) is a rare autosomal carbohydrate malabsorption disorder caused by mutations in the sucrase–isomaltase gene. While the prevalence of CSID is high in the indigenous populations of Alaska and Greenland, it is imprecise and ambiguous in the Turkish pediatric population. In this cross-sectional case–control study, which is retrospective in nature, next-generation
-
Role of cryptic rearrangements of human chromosomes in the aetiology of schizophrenia J. Genet. (IF 1.5) Pub Date : 2023-05-09 Livia Jurisova, Roman Solc
-
Dual effect of methylene-tetrahydrofolate reductase and angiotensin-converting enzyme gene polymorphisms on the risk of acute ischemic stroke J. Genet. (IF 1.5) Pub Date : 2023-04-27 Nevin Karakus, Serbulent Yigit, Nursah Basol, Onur Incealtin
Ischemic stroke, a prevalent neurological disease, is the major reason of serious disability and death worldwide. Methylene-tetrahydrofolate reductase (MTHFR) gene polymorphisms increase homocysteine levels which also raise the risk of vascular diseases. Angiotensin-converting enzyme (ACE) gene polymorphisms can cause vascular reorganization and disrupt arterial wall stability. The aim of this study
-
Identification of fertility restorers for A2 cytoplasm-based CGMS lines and development of short duration hybrids in pigeonpea (Cajanus cajan (L.) Millsp.) J. Genet. (IF 1.5) Pub Date : 2023-04-25 M. S. Ranjani, P. Jayamani
-
Association of ABCA1 R219K polymorphism and telomere length in a Chinese rural population: possible linking to systemic inflammation J. Genet. (IF 1.5) Pub Date : 2023-03-31 Shutan Liao, Qing Zhou, Yang Zhang
-
Distinct gene expression patterns of SOX2 and SOX2OT variants in different types of brain tumours J. Genet. (IF 1.5) Pub Date : 2023-03-27 Youssef Fouani, Akram Gholipour, Maziar Oveisee, Alireza Shahryari, Hooshang Saberi, Seyed Javad Mowla, Mahshid Malakootian
-
Mitochondrial markers differentiate two distinct phylogenetic groups in indigenous rice landraces of northeast India: an evolutionary insight J. Genet. (IF 1.5) Pub Date : 2023-03-27 Madhuchhanda Parida, Gayatri Gouda, Parameswaran Chidambaranathan, Ngangkham Umakanta, Jawahar Lal Katara, Cayalvizhi Balasubramania Sai, Sanghamitra Samantaray, Bhaskar Chandra Patra, Trilochan Mohapatra
-
Differential expression of the androgen receptor gene is correlated with CAG polymorphic repeats in patients with prostate cancer J. Genet. (IF 1.5) Pub Date : 2023-02-27 Martín Irigoyen Arredondo, José Romero Quintana, Eliakym Arámbula Meraz, Fernando Bergez Hernández, Fred Luque Ortega, Alejandra Martínez Camberos, Marco Álvarez Arrazola, Enrique Romo Martínez, Dora Cedano Prieto, José Contreras Gutiérrez, Noemi García Magallanes
-
Intronic OTOF mutation causes an atypical splicing defect resulting in auditory neuropathy spectrum disorder J. Genet. (IF 1.5) Pub Date : 2023-02-27 Sanaz Mohammadi, Hossein Jafari Khamirani, Sina Zoghi, Seyed Alireza Dastgheib, Seyed Mohammad Bagher Tabei, Mahdieh Talebzadeh, Mohammad Hossein Adibi, Mehdi Dianatpour
-
Transcribed intergenic regions exhibit a lower frequency of nucleotide polymorphism than the untranscribed intergenic regions in the genomes of Escherichia coli and Salmonella enterica J. Genet. (IF 1.5) Pub Date : 2023-02-16 Pratyush Kumar Beura, Piyali Sen, Ruksana Aziz, Siddhartha Shankar Satapathy, Suvendra Kumar Ray
-
Identification of genetic polymorphism of the MBL2 gene and its association with clinical mastitis in Murrah buffaloes J. Genet. (IF 1.5) Pub Date : 2023-02-11 Shahid Ahmad Shergojry, Archana Verma, Minerva Ghani, Ishwar Dayal Gupta, Nazir Ahmad Mir
-
Many OX PHOS and replication factor mRNAs target mitochondria through specific binding to the organelle surface, independent of co-translational protein import J. Genet. (IF 1.5) Pub Date : 2023-02-06 Samit Adhya, Milon Banik
-
First detection of endopolyploidy in tapetal cells and chromosomal anomalies in meiocytes of Viola pilosa cytotypes (2n=20) from Pir Panjal (Himalayas) J. Genet. (IF 1.5) Pub Date : 2023-01-31 Tasir Iqbal, Geeta Sharma
-
Identification of a novel mutation in the HACD1 gene in an Iranian family with autosomal recessive congenital myopathy, with fibre-type disproportion J. Genet. (IF 1.5) Pub Date : 2023-01-24 Neda Jabbarpour, Bita Poorshiri, Hassan Saei, Mohammad Barzegar, Mortaza Bonyadi
-
Individuals with T-786C and G894T genotypes of eNOS in Chinese Han population have an increased risk of developing rheumatoid arthritis J. Genet. (IF 1.5) Pub Date : 2023-01-17 SHAOPENG LIN, DAOQIANG LIN, LINAN QIU, YUEPING WU, XIN LIU
-
A novel variant of TNNC1 associated with severe dilated cardiomyopathy causing infant mortality and stillbirth: a case of germline mosaicism J. Genet. (IF 1.5) Pub Date : 2023-01-09 Rupa Udani, Kala F. Schilter, Rebecca C. Tyler, Brandon A. Smith, Jaime L. Wendt-Andrae, Ulrike P. Kappes, Gunter Scharer, Anna Lehman, Michelle Steinraths, Honey V. Reddi
-
Is the fundamental pathology in Duchenne's muscular dystrophy caused by a failure of glycogenolysis–glycolysis in costameres? J. Genet. (IF 1.5) Pub Date : 2023-01-09 Vishakha Nesari, Suresh Balakrishnan, Upendra Nongthomba
-
Celiac disease-associated loci show considerable genetic overlap with neuropsychiatric diseases but with limited transethnic applicability J. Genet. (IF 1.5) Pub Date : 2023-01-10 Nidhi Sharma, Pratibha Banerjee, Ajit Sood, Vandana Midha, B. K. Thelma, Sabyasachi Senapati
-
Imputation of SNPs associated with presbycusis through linkage disequilibrium analysis in the ILDR1 gene J. Genet. (IF 1.5) Pub Date : 2023-01-10 Sergio V. Flores, Alejandro Levi-Monsalve, Juan Pablo Álvarez-Lobo
-
EMX2OS targeting IGF2BP1 represses Wilms’ tumour stemness, epithelial–mesenchymal transition and metastasis J. Genet. (IF 1.5) Pub Date : 2023-01-03 Hong-Mei Zhang, Ming-Yu Cui, Zhi-Hong Chen
-
In silico genotyping of blood group alleles using WGS data: a comparative study of the Orang Asli in Peninsular Malaysia. J. Genet. (IF 1.5) Pub Date : 2023-01-01 Mercy Rophina,Teh Lay Kek,Sridhar Sivasubbu,Vinod Scaria,Mohd Zaki Salleh
Differences in the distribution of RBC antigens defining the blood group types among different populations have been well established. Fewer studies exist that have explored the blood group profiles of indigenous populations worldwide. With the availability of population-scale genomic datasets, we have explored the blood group profiles of theOrang Aslis, who are the indigenous population in Peninsular
-
Genetics and Genomics: two sides of the same coin. J. Genet. (IF 1.5) Pub Date : 2023-01-01 R Harinarayanan
-
LncRNA TTN-AS1 exacerbates extracellular matrix accumulation via miR-493-3p/FOXP2 axis in diabetic nephropathy J. Genet. (IF 1.5) Pub Date : 2022-12-24 Lin Jia, Wenzhe Wang, Hui Liu, Fan Zhu, Yunfang Huang
-
Remnants of SIRE1 retrotransposons in human genome? J. Genet. (IF 1.5) Pub Date : 2022-12-17 Buket Cakmak Guner, Elif Karlik, Nermin Gozukirmizi
-
A time-calibrated mitogenomic phylogeny suggests that Korean Hyalessa fuscata is a bridge between Chinese and Japanese H. maculaticollis J. Genet. (IF 1.5) Pub Date : 2022-12-14 Hoa Quynh Nguyen, Phuong-Thao Ho, Sungsik Kong, Yoonhyuk Bae, Thai Hong Pham, Huyen Thi La, Yikweon Jang