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CFTR mutations causing congenital unilateral absence of the vas deferens(CUAVD)and congenital absence of the uterus(CAU)in a consanguineous family

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Asian Journal of Andrology 2022年第4期24卷 416-421页

作者： Mahdieh Daliri Ghouchanatigh Ranjha Khan Majid Mojarrad Uzma Hameed Muhammad Zubair Ahmed Waqas Mohsen Jalali Mahmoudreza Kalantari Ali Shamsa huan Zhang qing-hua shi The First Affiliated Hospital of USTC Hefei National Laboratory for Physical Sciences at the MicroscaleSchool of Life SciencesCAS Center for Excellence in Molecular Cell ScienceUniversity of Science and Technology of ChinaCollaborative Innovation Center of Genetics and DevelopmentHefei 230027China Department of Medical Genetics School of MedicineMashhad University of Medical SciencesMashhad 91735Iran Institute of Industrial Biotechnology Government College UniversityLahore 54000Pakistan Department of Zoology Division of Science and TechnologyUniversity of Education LahoreMultan CampusMultan 60000Pakistan Department of Reproductive Medicine Armaghan Infertility CenterMashhad 91735Iran Department of Pathology Mashhad University of Medical SciencesMashhad 91735Iran.

Cystic fibrosis(CF)is one of the most common recessive genetic diseases,with a wide spectrum of phenotypes,ranging from infertility to severe pulmonary disease.Mutations in the cystic fibrosis transmembrane conductance regulator(CFTR)gene are considered the main genetic cause for CF.In this study,we recruited a consanguineous Iranian pedigree with four male patients diagnosed with congenital unilateral absence of the vas deferens(CUAVD),and one female patient diagnosed with congenital absence of the uterus(CAU).Testicular biopsy of one patient was performed,and hematoxylin and eosin(H and E)staining of testis sections displayed the presence of germ cell types ranging from spermatogonia to mature spermatids,indicating obstructive azoospermia.To explore the underlying genetic factor in this familial disorder,we therefore performed whole-exome sequencing(WES)on all available family members.WES data filtration and CFTR haplotype analysis identified compound heterozygous mutations in CFTR among four patients(two CUAVD patients carried p.H949Y and p.L997F,and one CUAVD and the female CAU patient carried p.H949Y and p.I148T).All these mutations were predicted to be deleterious by at least half of the prediction software programs and were confirmed by Sanger sequencing.Our study reported that CFTR compound heterozygous mutations in a consanguineous Iranian family cause infertility in both sexes.

关键词： congenital absence of the uterus congenital unilateral absence of the vas deferens cystic fibrosis transmembrane conductance regulator whole-exome sequencing

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Blood-testis barrier and spermatogenesis： lessons From genetically-modified mice

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Asian Journal of Andrology 2014年第4期16卷 572-580页

作者： Xiao-hua Jiang Ihtisham Bukhari Wei Zheng shi Yin Zheng Wang Howard J Cooke qing-hua shi Hefei National Laboratory for Physical Sciences at Microscale School of Life Sciences University of Science and Technology of China Hefei China Medical Research Council Human Genetics Unit and Institute of Genetics and Molecular Medicine University of Edinburgh Edinburgh United Kingdom Institute of Physics Chinese Academy of Sciences Hefei China.

The blood-testis barrier （BTB） is found between adjacent Sertoli cells in the testis where it creates a unique microenvironment for the development and maturation of meiotic and postmeiotic germ cells in seminiferous tubes. It is a compound proteinous structure, composed of several types of cell junctions including tight junctions （TJs）, adhesion junctions and gap junctions （GJs）. Some of the junctional proteins function as structural proteins of BTB and some have regulatory roles. The deletion or functional silencing of genes encoding these proteins may disrupt the BTB, which may cause immunological or other damages to meiotic and postmeiotic cells and ultimately lead to spermatogenic arrest and infertility. In this review, we will summarize the findings on the BTB structure and function from genetically-modified mouse models and discuss the future perspectives.

关键词： blood-testis barrier genetically-modified mouse seminiferous tubule sertoli cells spermatogenesis

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A novel homozygous frameshift variant in DNAH8 causes multiple morphological abnormalities of the sperm flagella in a consanguineous Pakistani family

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Asian Journal of Andrology 2023年第3期25卷 350-355页

作者： Sobia Dil Asad Khan Ahsanullah Unar Meng-Lei Yang Imtiaz Ali Aurang Zeb huan Zhang Jian-Teng Zhou Muhammad Zubair Khalid Khan Shun Bai qing-hua shi Division of Reproduction and Genetics The First Affiliated Hospital of University of Science and Technology of ChinaSchool of Basic Medical SciencesDivision of Life Sciences and MedicineBiomedical Sciences and Health Laboratory of Anhui ProvinceUniversity of Science and Technology of ChinaHefei 230027China

Multiple morphological abnormalities of the sperm flagella(MMAF)is a severe form of asthenozoospermia categorized by immotile spermatozoa with abnormal flagella in ejaculate.Whole-exome sequencing(WES)is used to detect pathogenic variants in patients with MMAF.In this study,a novel homozygous frameshift variant(c.6158_6159insT)in dynein axonemal heavy chain 8(DNAH8)from two infertile brothers with MMAF in a consanguineous Pakistani family was identified by WES.Reverse transcription-polymerase chain reaction(RT-PCR)confirmed DNAH8 mRNA decay in these patients with the DNAH8 mutation.Hematoxylin–eosin staining and transmission electron microscopy revealed highly divergent morphology and ultrastructure of sperm flagella in these patients.Furthermore,an immunofluorescence assay showed the absence of DNAH8 and a reduction in its associated protein DNAH17 in the patients'spermatozoa.Collectively,our study expands the phenotypic spectrum of patients with DNAH8-related MMAF worldwide.

关键词： DNAH8 gene mutation male infertility multiple morphological abnormalities of the sperm flagella

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The molecular control of meiotic double-strand break (DSB) formation and its significance in human infertility

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Asian Journal of Andrology 2021年第6期23卷 555-561页

作者： Yang Li Yu-Fan Wu Han-Wei Jiang Ranjha Khan Qi-Qi Han Furhan Iqbal Xiao-hua Jiang qing-hua shi Division of Reproduction and Genetics First Affiliated Hospital of USTCHefei National Laboratory for Physical Sciences at Microscalethe CAS Key Laboratory of Innate Immunity and Chronic DiseaseSchool of Basic Medical SciencesDivision of Life Sciences and MedicineCAS Center for Excellence in Molecular Cell ScienceCollaborative Innovation Center of Genetics and DevelopmentUniversity of Science and Technology of ChinaHefei 230027China Institute of Pure and Applied Biology Bahauddin Zakariya UniversityMultan 60000Pakistan

Meiosis is an essential step in gametogenesis which is the key process in sexually reproducing organisms as meiotic aberrations may result in infertility. In meiosis, programmed DNA double-strand break (DSB) formation is one of the fundamental processes that are essential for maintaining homolog interactions and correcting segregation of chromosomes. Although the number and distribution of meiotic DSBs are tightly regulated, still abnormalities in DSB formation are known to cause meiotic arrest and infertility. This review is a detailed account of molecular bases of meiotic DSB formation, its evolutionary conservation, and variations in different species. We further reviewed the mutations of DSB formation genes in association with human infertility and also proposed the future directions and strategies about the study of meiotic DSB formation.

关键词： DNA double-strand break(DSB) infertility meiosis mutation

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A recurrent homozygous missense mutation in CCDC103 causes asthenoteratozoospermia due to disorganized dynein arms

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Asian Journal of Andrology 2022年第3期24卷 255-259页

作者： Muhammad Zubair Ranjha Khan Ao Ma Uzma Hameed Mazhar Khan Tanveer Abbas Riaz Ahmad Jian-Teng Zhou Wasim Shah Ansar Hussain Nisar Ahmed Ihsan Khan Khalid Khan Yuan-Wei Zhang huan Zhang Li-Min Wu qing-hua shi The First Affiliated Hospital of USTC The CAS Key Laboratory of Innate Immunity and Chronic DiseasesSchool of Life SciencesCAS Center for Excellence in Molecular Cell ScienceCollaborative Innovation Center of Genetics and DevelopmentUniversity of Science and Technology of ChinaHefei 230027China Institute of Industrial Biotechnology Government College UniversityLahore 54000Pakistan Medical Genetics Research Laboratory Department of BiotechnologyQuaid-i-Azam UniversityIslamabad 45320Pakistan

Asthenoteratozoospermia is one of the most severe types of qualitative sperm defects.Most cases are due to mutations in genes encoding the components of sperm flagella,which have an ultrastructure similar to that of motile cilia.Coiled-coil domain containing 103(CCDC103)is an outer dynein arm assembly factor,and pathogenic variants of CCDC103 cause primary ciliary dyskinesia(PCD).However,whether CCDC103 pathogenic variants cause severe asthenoteratozoospermia has yet to be determined.Whole-exome sequencing(WES)was performed for two individuals with nonsyndromic asthenoteratozoospermia in a consanguineous family.A homozygous CCDC103 variant segregating recessively with an infertility phenotype was identified(ENST00000035776.2,c.461A>C,p.His154Pro).CCDC103 p.His154Pro was previously reported as a high prevalence mutation causing PCD,though the reproductive phenotype of these PCD individuals is unknown.Transmission electron microscopy(TEM)of affected individuals’spermatozoa showed that the mid-piece was severely damaged with disorganized dynein arms,similar to the abnormal ultrastructure of respiratory ciliary of PCD individuals with the same mutation.Thus,our findings expand the phenotype spectrum of CCDC103 p.His154Pro as a novel pathogenic gene for nonsyndromic asthenospermia.

关键词： asthenoteratozoospermia CCDC103 dynein arms male infertility

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Computationally predicted pathogenic USP9X mutation identified in infertile men does not affect spermatogenesis in mice

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Zoological Research 2022年第2期43卷 225-228页

作者： Wei Liu Yue-Wen Wang huan Zhang Xue-Feng Xie Ao Ma Qumar Zaman Abdul Rafay Javed Tanveer Abbas Wasim Shah Riaz Ahmad Da-Ren Zhao Hui Ma Muhammad Zubair Ranjha Khan qing-hua shi Division of Reproduction and Genetics First Affiliated Hospital of USTCHefei National Laboratory for Physical Sciences at MicroscaleCAS Key Laboratory of Innate Immunity and Chronic DiseaseSchool of Basic Medical SciencesDivision of Life Sciences and MedicineBiomedical Sciences and Health Laboratory of Anhui ProvinceCAS Center for Excellence in Molecular Cell ScienceCollaborative Innovation Center of Genetics and DevelopmentUniversity of Science and Technology of ChinaHefeiAnhui 230027China Medical Genetics Research Laboratory Department of BiotechnologyQuaid-i-Azam UniversityIslamabad 45320Pakistan

Infertility is a major health issue,affecting approximately 15%of couples of child-bearing age.Although nearly half of idiopathic infertility cases are assumed to have a genetic basis,the underlying causes remain larg... 详细信息

关键词： tile assumed USP9X

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Photosynthesis and Water Use Efficiency of Platycladus Orientalis and Robinia Pseudoacacia Saplings under Steady Soil Water Stress during Different Stages of Their Annual Growth Period

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Journal of Integrative Plant Biology 2007年第10期49卷 1470-1477页

作者： Ming-Chun Wang Jin-Xin Wang qing-hua shi Jin-Song Zhang College of Forestry Northwest A&F University Yangling Shaanxi China712100 College of Resources and Environment Northwest A&F University Yangling Shaanxi China712100 Research Institute of Forestry Chinese Academy of Forestry Beijing China100091

A simulated drought experiment was conducted in a rain-free shed to test the physiological response of Platycladus orientalis and Robinia pseudoacacia saplings to steady soil water stress during different stages. The five soil water treatments were： 100%, 87.84%, 70%, 52.16% and 40% of field capacity. The results showed that the net photosynthetic rate of R. pseudoacacia decreased as soil water potential decreased in the range between -0.041 MPa and -0.292 MPa. The threshold value at which the net photosynthetic rate changed significantly was -0.12 MPa. The relationship between net photosynthetic rate of P. orientalis and soil water potential could be described as a quadratic parabola in the range between -0.041 MPa and -0.648 MPa. Analysis of variance showed significant differences in the net photosynthetic rate of P. orientalis between soil water potentials of -0.061 MPa ~, -0.648 MPa. Average water use efficiency （WUE） increased as soil water potential decreased, but the influence mechanism of soil water stress on leaf WUE and photosynthetic rate for the two species were different evidently.

关键词： growth stages photosynthesis Platycladus onentalis Robinia pseudoacacia sapling steady water stress water use efficiency.

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Novel biallelic loss-of-function mutations in CFAP43 cause multiple morphological abnormalities of the sperm flagellum in Pakistani families

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Asian Journal of Andrology 2021年第6期23卷 627-632页

作者： Ihsan Khan Basit Shah Sobia Dil Nadeem Ullah Jian-Teng Zhou Da-Ren Zhao Yuan-Wei Zhang Xiao-hua Jiang Ranjha Khan Asad Khan Haider Ali Muhammad Zubair Wasim Shah huan Zhang qing-hua shi First Affiliated Hospital of USTC Hefei National Laboratory for Physical Sciences at Microscalethe CAS Key Laboratory of Innate Immunity and Chronic DiseaseSchool of Basic Medical SciencesDivision of Life Sciences and MedicineCAS Center for Excellence in Molecular Cell ScienceCollaborative Innovation Center of Genetics and DevelopmentUniversity of Science and Technology of ChinaHefei 230027China

Multiple morphological abnormalities of the sperm flagella(MMAF)is a specific type of asthenoteratozoospermia,presenting with multiple morphological anomalies in spermatozoa,such as absent,bent,coiled,short,or irregular caliber flagella.Previous genetic studies revealed pathogenic mutations in genes encoding cilia and flagella-associated proteins(CFAPs;e.g.,CFAP43,CFAP44,CFAP65,CFAP69,CFAP70,and CFAP251)responsible for the MMAF phenotype in infertile men from different ethnic groups.However,none of them have been identified in infertile Pakistani males with MMAF.In the current study,two Pakistani families with MMAF patients were recruited.Whole-exome sequencing(WES)of patients and their parents was performed.WES analysis reflected novel biallelic loss-of-function mutations in CFAP43 in both families(Family 1:ENST00000357060.3,p.Arg300Lysfs*22 and p.Thr526Serfs*43 in a compound heterozygous state;Family 2:ENST00000357060.3,p.Thr526Serfs*43 in a homozygous state).Sanger sequencing further confirmed that these mutations were segregated recessively in the families with the MMAF phenotype.Semiquantitative reverse-transcriptase polymerase chain reaction(qRT-PCR)was carried out to detect the effect of the mutation on mRNA of the affected gene.Previous research demonstrated that biallelic loss-of-function mutations in CFAP43 accounted for the majority of all CFAP43-mutant MMAF patients.To the best of our knowledge,this is the first study to report CFAP43 biallelic loss-of-function mutations in a Pakistani population with the MMAF phenotype.This study will help researchers and clinicians to understand the genetic etiology of MMAF better.

关键词： cilia and flagella-associated proteins male infertility multiple morphological abnormalities of the sperm flagella whole-exome sequencing

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Semen parameters in men recovered from COVID-19

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Asian Journal of Andrology 2021年第5期23卷 479-483页

作者： Tong-Hang Guo Mei-Ying Sang Shun Bai Hui Ma Yang-Yang Wan Xiao-hua Jiang Yuan-Wei Zhang Bo Xu Hong Chen Xue-Ying Zheng Si-Hui Luo Xue-Feng Xie Chen-Jia Gong Jian-Ping Weng qing-hua shi The First Affiliated Hospital of USTC Hefei National Laboratory for Physical Sciences at MicroscaleThe CAS Key Laboratory of Innate Immunity and Chronic DiseasesSchool of Life SciencesUniversity of Science and Technology of ChinaHefei 230027China The Clinical Research Hospital(Hefei)of Chinese Academy of Science Hefei 230001China

The novel coronavirus disease(COVID-19)pandemic is emerging as a global health threat and shows a higher risk for men than women.Thus far,the studies on andrological consequences of COVID-19 are limited.To ascertain the consequences of COVID-19 on sperm parameters after recovery,we recruited 41 reproductive-aged male patients who had recovered from COVID-19,and analyzed their semen parameters and serum sex hormones at a median time of 56 days after hospital discharge.For longitudinal analysis,a second sampling was obtained from 22 of the 41 patients after a median time interval of 29 days from first sampling.Compared with controls who had not suffered from COVID-19,the total sperm count,sperm concentration,and percentages of motile and progressively motile spermatozoa in the patients were significantly lower at first sampling,while sperm vitality and morphology were not affected.The total sperm count,sperm concentration,and number of motile spermatozoa per ejaculate were significantly increased and the percentage of morphologically abnormal sperm was reduced at the second sampling compared with those at first in the 22 patients examined.Though there were higher prolactin and lower progesterone levels in patients at first sampling than those in controls,no significant alterations were detected for any sex hormones examined over time following COVID-19 recovery in the 22 patients.Although it should be interpreted carefully,these findings indicate an adverse but potentially reversible consequence of COVID-19 on sperm quality.

关键词： COVID-19 semen sex hormones sperm count sperm motility spermatogenesis

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Ultrasound diagnosis of congenital Morgagni hernias: Ten years of experience at two Chinese centers

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World Journal of Clinical Cases 2024年第3期12卷 495-502页

作者： Hui-qing shi Wen-Juan Chen Qiang Yin Xue-hua Zhang Department of Ultrasound Fujian Children’s Hospital(Fujian Branch of Shanghai Children’s Medical Center)College of Clinical Medicine for Obstetrics&Gynecology and PediatricsFujian Medical UniversityFuzhou 350011Fujian ProvinceChina Department of Ultrasound Hunan Children’s HospitalUniversity of South ChinaChangsha 410007Hunan ProvinceChina Department of Pediatric Surgery Hunan Children’s HospitalUniversity of South ChinaChangsha 410007Hunan ProvinceChina

BACKGROUND Morgagni hernias are rare anomalies that are easily misdiagnosed or missed.AIM To summarize the ultrasound(US)imaging characteristics of Morgagni hernias through a comparison of imaging and surgical results.METHODS The records of children with Morgagni hernias who were hospitalized at two hospitals between January 2013 and November 2023 were retrospectively re-viewed in terms of clinical findings,US features,and operative details.RESULTS Between 2013 and 2023,we observed nine(five male and four female)children with Morgagni hernias.Upper abdominal scanning revealed a widening of the prehepatic space,with an abnormal channel extending from the xiphoid process to the right or left side of the thoracic cavity.The channel had intestinal duct and intestinal gas echoes.Hernia contents were found in the transverse colon(n=6),the colon and small intestine(n=2),and the colon and stomach(n=1).Among the patients,seven had a right-sided lesion,two had a left-sided lesion,and all of them had hernial sacs.CONCLUSION US imaging can accurately determine the location,extent,and content of Morgagni hernias.For suspected Mor-gagni hernias,we recommend performing sonographic screening first.

关键词： Children Congenital diaphragmatic hernias Morgagni hernia Operation Ultrasound Gastrointestinal imaging

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