Article
Genetics & Heredity
Xuefeng Xie, Mazhar Khan, Muhammad Zubair, Abbas Khan, Ranjha Khan, Jianteng Zhou, Yuanwei Zhang, Muzafar Said, Sher Ali Khan, Qamar Zaman, Ghulam Murtaza, Muzamil Ahmad Khan, Wei Liu, Xiaoning Hou, Huan Zhang, Bo Xu, Xiaohua Jiang, Shun Bai, Qinghua Shi
Summary: Non-obstructive azoospermia (NOA) is a major cause of male infertility, with the majority of cases remaining idiopathic. This study identified a novel missense mutation in the DND1 gene using whole-exome sequencing, and demonstrated its impact on male fertility through protein misfolding and weakened interaction with the crucial regulator NANOS2 in primordial germ cell development.
FRONTIERS IN GENETICS
(2022)
Article
Endocrinology & Metabolism
Wei You, Jianming Yang, Lu Wang, Yanqun Liu, Wen Wang, Li Zhu, Wei Wang, Jun Yang, Fangyuan Chen
Summary: Type A Insulin resistance syndrome (TAIRS) is a genetic disorder caused by INS R gene mutation, characterized by hyperinsulinemia and abnormal glucose metabolism. A novel heterozygous missense mutation of INS R gene was identified in a Chinese TAIRS family, which may lead to pancreatic beta cell dysfunction and contribute to the development of diabetes.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Lucia Fadiga, Mariana Lavrador, Nuno Vicente, Luisa Barros, Catarina Goncalves, Asma Al-Naama, Luis R. Saraiva, Manuel C. Lemos
Summary: A novel missense mutation in the FGFR1 gene associated with CHH has been identified, expanding the mutational spectrum of this gene and contributing to the understanding of the pathogenesis of CHH.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Genetics & Heredity
Lu Cao, Ruixue Zhang, Liang Yong, Shirui Chen, Hui Zhang, Weiwei Chen, Qiongqiong Xu, Huiyao Ge, Yiwen Mao, Qi Zhen, Yafen Yu, Xia Hu, Liangdan Sun
Summary: A novel missense mutation in the SASH1 gene was identified as the cause of Dyschromatosis universalis hereditaria (DUH) in a Chinese family. Despite the affected family members having identical mutations, differences in clinical manifestations were observed, highlighting the complexity of phenotype-influencing factors in DUH.
BMC MEDICAL GENOMICS
(2021)
Article
Biochemistry & Molecular Biology
Yanbo Kong, Haoan Yi, Fan Li, Xiu Duan, Lipu Yang, Xinyu Fan, Guojiu Wu, Minjun Ma, Xu Zha, Yongshu He
Summary: The aim of this study was to identify the causative gene associated with presenile cataract in a Chinese family. Through pedigree analysis and genetic sequencing, a mutation in the CRYBA2 gene was found to potentially contribute to the development of the disease.
MOLECULAR GENETICS AND GENOMICS
(2023)
Article
Genetics & Heredity
Runfeng Zhang, Peng Jia, Yanyi Yao, Feng Zhu
Summary: This study reported a case of mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) in a Chinese family. Through genetic analysis, a novel variant in the CASK gene associated with the disease was identified. The patient exhibited symptoms such as microcephaly, pontocerebellar hypoplasia, and severe intellectual disabilities. This research facilitates the diagnosis of the disease in the family and expands the variant spectrum of the CASK gene in MICPCH patients.
FRONTIERS IN GENETICS
(2022)
Article
Genetics & Heredity
Mengmeng Lu, Shuai Kong, Mingfei Xiang, Yu Wang, Jingjing Zhang, Zongliu Duan, Xiaomin Zha, Fengsong Wang, Yunxia Cao, Fuxi Zhu
Summary: In this study, a novel homozygous missense mutation of PMFBP1 was identified in an infertile male from a consanguineous family, leading to a significant decrease in expression of the mutant protein in sperm. This mutation may be a cause of acephalic spermatozoa syndrome, providing a basis for genetic counseling for the patient.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2021)
Article
Genetics & Heredity
Shimriet Zeidler, Lies Anne Severijnen, Helen de Boer, Esmay C. van der Toorn, Claudia A. L. Ruivenkamp, Emilia K. Bijlsma, Rob Willemsen
Summary: Fragile X syndrome (FXS) is a common monogenetic cause of intellectual disability and autism spectrum disorders, usually resulting from FMR1 gene transcriptional silencing. A missense variant in the FMR1 gene was described in a boy with intellectual disability, leading to significant retention of FMRP in the nucleus, potentially affecting its essential functional sites in dendrites and synaptic compartments.
Article
Pediatrics
Claudia L. Gaefke, Jonathan Metts, Donya Imanirad, Daime Nieves, Paola Terranova, Gianluca Dell'Orso, Eleonora Gambineri, Maurizio Miano, Richard F. Lockey, Jolan Eszter Walter, Emma Westermann-Clark
Summary: ALPS is a disease with variable penetrance caused by mutations in the FAS gene, which can present with various symptoms. Prompt recognition and targeted therapy based on genetic testing are crucial for optimal management. A previously unreported FAS gene variant was identified in a cohort of ALPS patients, highlighting the importance of genetic testing in subjects with clinical features of the disease.
FRONTIERS IN PEDIATRICS
(2021)
Article
Biochemistry & Molecular Biology
Joicymara S. Xavier, Thanh-Binh Nguyen, Malancha Karmarkar, Stephanie Portelli, Pamela M. Rezende, Joao P. L. Velloso, David B. Ascher, Douglas E. Pires
Summary: ThermoMutDB is a manually curated database containing experimental data of thermodynamic parameters for proteins, allowing users to contribute new data points and programmatically access the database via a RESTful API. It also includes corrections for annotation errors in previously curated entries, making it a valuable research tool.
NUCLEIC ACIDS RESEARCH
(2021)
Article
Cardiac & Cardiovascular Systems
Thao Nguyen Phan, Long Hoang Luong, The Huy Nguyen, Hoang Duc Nguyen, Tran Thuy Nguyen
Summary: This case report presents the first ELN-related mid-aortic syndrome in Vietnam, which was diagnosed through careful clinical and genetic workup. The finding of mid-aortic syndrome was incidental, and the decision to reverse the occlusion was postponed.
BMC CARDIOVASCULAR DISORDERS
(2022)
Article
Pediatrics
Behjat Ul Mudassir, Zehra Agha
Summary: The RTTN gene is associated with various neurological defects and microcephaly syndromes. In this study, a consanguineous Pakistani family with suspected Seckel syndrome was analyzed using clinical diagnosis and genetic analysis. A novel pathogenic variant in the RTTN gene was discovered, expanding the knowledge of RTTN gene variants associated with Seckel syndrome and broadening its phenotype spectrum in the Pakistani population. This study has important implications for molecular diagnosis and therapeutics for patients with Seckel syndrome.
Article
Otorhinolaryngology
Zhijie Niu, Lingyun Mei, Fen Tang, Jiada Li, Xueping Wang, Jie Sun, Chufeng He, Hongsheng Cheng, Yalan Liu, Xinzhang Cai, Jian Song, Yong Feng, Lu Jiang
Summary: This study investigated the genetic cause of hearing loss in a Chinese WS1 family, identifying a novel missense mutation in the PAX3 gene and revealing the functional consequences of the mutation. The findings suggest haploinsufficiency may be the underlying mechanism for the WS1 phenotype.
EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY
(2021)
Article
Genetics & Heredity
Kailai Nie, Junting Huang, Longqian Liu, Hongbin Lv, Danian Chen, Wei Fan
Summary: In this study, novel ocular manifestations of Baraitser-Winter cerebrofrontofacial syndrome were discovered in a Chinese patient, and a new genetic variant associated with the syndrome was identified. Further analysis revealed that this variant may lead to abnormal cellular organization, contributing to a better understanding of the pathogenic mechanisms of the syndrome.
FRONTIERS IN GENETICS
(2022)
Correction
Genetics & Heredity
Patrick Lores, Zine-Eddine Kherraf, Amir Amiri-Yekta, Marjorie Whitfield, Abbas Daneshipour, Laurence Stouvenel, Caroline Cazin, Emma Cavarocchi, Charles Coutton, Marie-Astrid Llabador, Christophe Arnoult, Nicolas Thierry-Mieg, Lucile Ferreux, Catherine Patrat, Seyedeh-Hanieh Hosseini, Selima Fourati Ben Mustapha, Raoudha Zouari, Emmanuel Dulioust, Pierre F. Ray, Aminata Toure
Summary: A correction to this paper has been published and more information can be found in the link provided.
Review
Endocrinology & Metabolism
Sahar Alijanpour, Mohammad Miryounesi, Soudeh Ghafouri-Fard
Summary: This review focuses on the role of EAAT2 in epilepsy and other neurological disorders, and provides an overview of the therapeutic modulation of this protein.
METABOLIC BRAIN DISEASE
(2023)
Review
Pathology
Soudeh Ghafouri-Fard, Arash Safarzadeh, Bashdar Mahmud Hussen, Mohammad Taheri, Majid Mokhtari
Summary: Colorectal Neoplasia Differentially Expressed (CRNDE) is an lncRNA that plays a crucial role in cancer development. It is located on chromosome 16 and shares a bidirectional promoter with the adjacent IRX5 gene. CRNDE has been evaluated as a potential therapeutic target in various hematological malignancies and solid tumors. It regulates multiple pathways and axes involved in cell apoptosis, immune responses, and tumorigenesis. This review provides an updated understanding of the role of CRNDE in cancer development.
PATHOLOGY RESEARCH AND PRACTICE
(2023)
Article
Endocrinology & Metabolism
Soudeh Ghafouri-Fard, Sara Ahmadi Teshnizi, Shahryar Azizi, Solat Eslami, Mohammad Taheri, Fariborz Rashnoo
Summary: Obesity is a global problem influenced by genetic factors. The study found an association between the GRM7 gene and obesity.
METABOLIC BRAIN DISEASE
(2023)
Article
Pathology
Mehdi Toghi, Sara Bitarafan, Soudeh Ghafouri-Fard
Summary: Th17.1 cells, an intermediate cell type between Th17 and Th1, play a significant role in autoimmune diseases. These cells are more pathogenic and may contribute to the development of rheumatoid arthritis.
PATHOLOGY RESEARCH AND PRACTICE
(2023)
Review
Pathology
Sheyda Khalilian, Zahra Mohajer, Mohammad Amin Khazeei Tabari, Farbod Ghobadinezhad, Soudeh Ghafouri-Fard
Summary: This article summarizes the oncogenic effect of circGFRA1 in various cancers based on in vitro, in vivo, and clinical research. Furthermore, functional enrichment analysis was conducted on the circGFRA1 host gene and its protein interaction network to identify gene ontology and related pathways.
PATHOLOGY RESEARCH AND PRACTICE
(2023)
Article
Pathology
Mohsen Ahmadi, Parisa Najari-Hanjani, Roya Ghaffarnia, Sayyed Mohammad Hossein Ghaderian, Pegah Mousavi, Soudeh Ghafouri-Fard
Summary: This study reveals that the expression of hsa-miR-3613-5p is associated with Kidney renal clear cell carcinoma (KIRC). The overexpression of hsa-miR-3613-5p in KIRC tissues has diagnostic merit and is significantly correlated with poor overall survival of patients. Abnormal expression of hsa-miR-3613-5p is correlated with various clinical parameters in patients with KIRC. Furthermore, a regulatory network of hsa-miR-3613-5p in KIRC is identified and pathway enrichment analysis shows its involvement in cell cycle, cell adhesion molecules, and hepatocellular carcinoma pathways. These findings suggest that hsa-miR-3613-5p may serve as a valuable indicator for early detection, risk stratification, and targeted treatment of KIRC.
PATHOLOGY RESEARCH AND PRACTICE
(2023)
Review
Pathology
Mohsen Ahmadi, Firouzeh Morshedzadeh, Soudeh Ghafouri-Fard
Summary: This article provides a comprehensive review of the oncogenic effect of circ_0000285, a circular RNA, in various cancers. The study also identifies potential miRNAs and RNA-binding proteins that interact with circ_0000285, offering new insights for further research.
PATHOLOGY RESEARCH AND PRACTICE
(2023)
Review
Pathology
Soudeh Ghafouri-Fard, Arian Askari, Bashdar Mahmud Hussen, Mohammed Fatih Rasul, Mohammad Taheri, Seyed Abdulmajid Ayatollahi
Summary: LINC00472 is a long intergenic non-protein coding RNA that regulates diverse cellular functions and contributes to the etiology of human disorders. It acts as a sponge for multiple miRNAs and regulates several signaling pathways. Further investigation of LINC00472's roles can lead to the development of effective therapeutic approaches against cancer and related diseases.
PATHOLOGY RESEARCH AND PRACTICE
(2023)
Review
Pathology
Sheyda Khalilian, Seyedeh Zahra Hosseini Imani, Sayedeh Azimeh Hosseini, Soudeh Ghafouri-Fard
Summary: miR-770 is an RNA gene located on chromosome 14q32.2 that plays important roles in the pathobiology of cancers and other human diseases. It acts as a tumor suppressor in breast cancer, ovarian cancer, gastric cancer, non-small cell lung cancer, prostate cancer, and glioblastoma, but as an oncogenic miRNA in colorectal adenocarcinoma and oral squamous cell carcinoma. Dysregulation of miR-770 serves as a potential biomarker for disease diagnosis and prognosis in several disorders.
PATHOLOGY RESEARCH AND PRACTICE
(2023)
Review
Pathology
Sheyda Khalilian, Zahra Mohajer, Seyedeh Zahra Hosseini Imani, Soudeh Ghafouri-Fard
Summary: CircWHSC1 is a cancer-related circRNA that acts as a sponge for multiple miRNAs and regulates various signaling pathways, leading to increased cell growth and metastasis. Upregulation of CircWHSC1 is associated with reduced patient survival.
PATHOLOGY RESEARCH AND PRACTICE
(2023)
Article
Pathology
Solmaz Abolghasemi, Maryam Bikhof Torbati, Parviz Pakzad, Soudeh Ghafouri-Fard
Summary: Lung cancer is a devastating disease with high prevalence and mortality rate globally, and non-small cell lung cancer (NSCLC) accounts for 85% of cases. This study examined the expression levels of STAT, SOCS, and PIAS family genes involved in angiogenesis, proliferation, and differentiation. The results showed that STAT3 gene expression was higher in tumor tissue samples compared to normal tissue, particularly in adenocarcinoma with higher histological grade. Expression of SOCS1 and SOCS2 genes in tumors was lower, but the reduction was not significant. Further analysis revealed a significant decrease in the expression of SOCS1 and 2 genes in adenocarcinoma subtype. The findings suggest that these genes could be potential targets for future studies in NSCLC.
PATHOLOGY RESEARCH AND PRACTICE
(2023)
Review
Pathology
Soudeh Ghafouri-Fard, Arash Safarzadeh, Solmaz Hassani Fard Katiraei, Bashdar Mahmud Hussen, Mohammadreza Hajiesmaeili
Summary: This review article explores the functions of miR-328 in the development of human carcinogenesis and highlights the discrepancies in different studies, which may be attributed to different stages/grades of tumor tissues or other clinical characteristics.
PATHOLOGY RESEARCH AND PRACTICE
(2023)
Article
Endocrinology & Metabolism
Melina Ghamari, Mahdieh Mehrab Mohseni, Mohammad Taheri, Seyedeh Morvarid Neishabouri, Zeinab Shirvani-Farsani
Summary: This study investigated the expression of three lncRNAs in bipolar disorder patients and found significant upregulation of RMRP and CTC-487M23.5 in BD individuals, with upregulation of RMRP in females with BD. The study suggests a potential role for RMRP and CTC-487M23.5 as biomarkers for BD.
METABOLIC BRAIN DISEASE
(2023)
Article
Oncology
Somayeh Hashemi Sheikhshabani, Zeinab Amini-Farsani, Nesa Kazemifard, Parastoo Modarres, Zahra Amini-Farsani, Mir Davood Omrani, Soudeh Ghafouri-Fard
Summary: A meta-analysis was conducted to assess miss-expressed genes related to cisplatin resistance in ovarian cancer. The study found that upstream regulators of the PI3K/AKT signaling pathway, ion channels, and cell adhesion proteins play important roles in the development of cisplatin resistance.
Article
Cell Biology
Mohammad Taheri, Amir Nicknam, Atena Bagan, Solat Eslami, Azadeh Rakhshan, Soudeh Ghafouri-Fard
Summary: In this study, a bioinformatics analysis was used to identify significant differences in genes and pathways between tumor tissues of NFPA patients and normal pituitary tissues. The study focused on investigating the expression of specific lncRNAs in NFPA samples compared to healthy tissues adjacent to the tumors. Results showed dysregulation of three lncRNAs in NFPA tissues, suggesting their potential role as important regulators of pathogenic events in these tumors.
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE
(2023)
Article
Genetics & Heredity
Xiangge Meng, Chengping Li, Yu Hei, Xiang Zhou, Guoli Zhou
Summary: The study used IVT-SAPAS sequencing to analyze the dynamic changes of APA sites during adipogenesis in bovine subcutaneous preadipocytes and intramuscular preadipocytes. The results showed that APA plays an important role in adipocyte differentiation, and UTR-APA switching genes have different trends, with intramuscular preadipocytes tending to use shorter 3'UTR for differentiation. TRIB3, WWTR1, and INSIG1 play important roles in intramuscular preadipocyte differentiation.
Article
Genetics & Heredity
S. Alizadeh, S. Khamse, N. Tajeddin, H. R. Khorram Khorshid, A. Delbari, M. Ohadi
Summary: This study identifies a specific genotype at a CG-rich trinucleotide short tandem repeat (STR) locus that is associated with late-onset neurocognitive disorders such as Alzheimer's disease (AD).
Article
Genetics & Heredity
Shougang Liu, Zhe Zhuang, Fanghua Liu, Xiuqing Yuan, Zeqiao Zhang, Xiaoqian Liang, Xinhui Li, Yongfeng Chen
Summary: This study investigated the effect and mechanism of RPL9 and TIFA in scalp psoriasis, and identified RPL9 as a potential therapeutic target for scalp psoriasis.
Article
Genetics & Heredity
Shiting Wang, Jiaqi Chen, Zhichao Jin, Ying Xing, Ruiping Wang
Summary: This study suggests a causal association between hair color and skin cancers, with light hair colors (red, blonde, and light brown) being associated with an increased risk and dark brown hair being associated with a decreased risk.
Article
Genetics & Heredity
Joseph Hawadak, Loick Pradel Kojom Foko, Rodrigue Roman Dongang Nana, Karmveer Yadav, Veena Pande, Aparup Das, Vineeta Singh
Summary: This study investigates the genetic diversity and natural selection of the Pfama-1 gene in Plasmodium falciparum isolates from Cameroon. The study finds a considerable nucleotide and haplotype diversity, as well as specific mutations in Cameroonian isolates. Positive diversifying selection and the identification of selected codon sites suggest the potential implication of these genetic variations in host immune pressure and parasite-binding complex modulation. The findings provide valuable baseline data for malaria vaccine design.
Article
Genetics & Heredity
Emily Biernat, Mansi Verma, Chhabi K. Govind
Summary: RSC is an essential ATP-dependent chromatin remodeling complex in Saccharomyces cerevisiae. It regulates nucleosome-depleted regions (NDRs) by sliding flanking nucleosomes away from NDRs. Depletion of RSC leads to nucleosome encroachment in NDRs and transcription initiation defects. The study compared the effects of catalytic-dead Sth1 and rapid depletion of Sth1 on transcription. Rapid depletion of Sth1 reduces recruitment of TBP and Pol II, while the catalytic-dead mutant exhibits a severe reduction in TBP binding but accumulates Pol II in coding regions. The results suggest a role for RSC in transcription elongation and termination processes.
Article
Genetics & Heredity
Yunxiao Wei, Yuhan Song, Muhammad Aamir Khan, Chengzhen Liang, Zhigang Meng, Yuan Wang, Sandui Guo, Rui Zhang
Summary: This study analyzed the GhTPP protein family in upland cotton for the first time and identified the important role of GhTPPA_2 in regulating sugar metabolism, improving soluble sugar accumulation, and drought stress tolerance.
Article
Genetics & Heredity
Yannan Geng, Rui Shao, Tiantong Xu, Lilong Zhang
Summary: A novel risk model based on SCUBE3, TNNC1, SPON1, SEPT12 and ULBP1 genes was developed for predicting PMOP risk, with higher risk score indicating higher risk of suffering from PMOP. Significant differences in signaling pathway activities were observed between the high-risk score group and the low-risk score group.
Article
Genetics & Heredity
Randy P. Williams, Corina Lesseur, Haoxiang Cheng, Qian Li, Maya Deyssenroth, Christopher D. Molteno, Ernesta M. Meintjes, Sandra W. Jacobson, Joseph L. Jacobson, Helen Wainwright, Ke Hao, Jia Chen, R. Colin Carter
Summary: The study suggests that heavy alcohol exposure during pregnancy may impact the proportion of fetal placental villi macrophages and increase the expression of inflammatory genes. Further research is needed to explore these effects and evaluate the potential functional roles of placental inflammation in FASD.
Article
Genetics & Heredity
Lvjing Luo, Lishuang Sun, Shu Li, Huiting Liu, Zhengyu Chen, Shi Huang, Yinyin Mo, Genliang Li
Summary: This study analyzed the expression of Ptpn1 and miR-124-3p in testicular tissues of mice and investigated their regulatory relationship. The results showed that Ptpn1 expression was up-regulated in adult mouse testis compared to juvenile mouse testis, while miR-124-3p expression showed an opposite pattern. Further analysis suggested that the down-regulation of miR-124-3p may contribute to the high expression of Ptpn1 in adult mouse testis.
Article
Genetics & Heredity
Gairui Li, Dan Zhao, Xiaolin Peng, Yashuang Zhao
Summary: MiRNA-22 shows potential as a candidate for early diagnosis of colorectal cancer (CRC). The study found higher miR-22 expression levels in the CRC and CRA groups, suggesting its potential as a biomarker for CRC early screening.
Article
Genetics & Heredity
Zhongqiu Zhu, Qianting Yang, Xiaoying Tian, Da Man, Jian Wang, Junfang Zhang, Bingshe Han
Summary: This study constructed a ceRNA network mediated by lncRNAs in cold-acclimated zebrafish ZF4 cells and revealed that upregulation of MSTRG3207 promotes apoptosis by sponging dre-miR-736 during cold acclimation.
Article
Genetics & Heredity
Weitao Chen, Denggao Xiang, Shang Gao, Shuli Zhu, Zhi Wu, Yuefei Li, Jie Li
Summary: Dam construction has negatively impacted the genetic diversity and structure of fish populations. This case study on the endangered Hemibagrus guttatus found low genetic diversity, high levels of inbreeding, and decreasing population size in fragmented populations. Genetic structure and differentiation were also observed, indicating the influence of dams on these fish populations.
Article
Genetics & Heredity
Pooja Singh, Debleena Guin, Bijay Pattnaik, Ritushree Kukreti
Summary: Through systematic literature review and meta-analysis, it was found that idiopathic pulmonary fibrosis is significantly associated with 222 polymorphisms in 118 genes. Four polymorphisms - rs35705950/MUC5B, rs2736100/TERT, rs2076295/DSP, and rs111521887/TOLLIP, exhibited substantial epidemiological evidence supporting their association with IPF risk.
Article
Genetics & Heredity
Jianping Zhang, Zhijun Cai, Fanzhe Feng, Yufeng Peng, Yi Cui, Yongiqing Xu
Summary: This study found that exosomes secreted by young BMSCs can promote the healing of tendon-bone interface after rotator cuff tears. These exosomes can improve extracellular matrix remodeling, osteogenic differentiation, angiogenesis, and stemness of tendon-derived stem cells (TDSCs). The exosomes from young BMSCs have better effects compared to those from aged BMSCs.
