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Two missense STK11 gene variations impaired LKB1/adenosine monophosphate-activated protein kinase signaling in Peutz-Jeghers syndrome

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World Journal of Gastrointestinal Oncology 2024年第4期16卷 1532-1546页

作者： Jin Liu Si-Cong Zeng An Wang Hai-Ying Cheng Qian-Jun Zhang guang-xiu lu Hunan guangxiu Hospital Hunan Normal UniversityChangsha 410000Hunan ProvinceChina Scientific Research Department Reproductive and Genetic Hospital of Citic-XiangyaChangsha 410000Hunan ProvinceChina

BACKGROUND Peutz-Jeghers syndrome(PJS)is a rare hereditary neoplastic disorder mainly associated with serine/threonine kinase 11(STK11/LKB1)gene *** genetic testing can protect a patient’s offspring from mutated genes;however,some variations in this gene have been interpreted as variants of uncertain significance(VUS),which complicate reproductive decision-making in genetic *** To identify the pathogenicity of two missense variants and provide clinical *** Whole exome gene sequencing and Sanger sequencing were performed on the peripheral blood of patients with PJS treated at the Reproductive and Genetic Hospital of *** was employed to predict the protein structure,conservation,and pathogenicity of the two missense variation sites in patients with ***,plasmids were constructed and transfected into HeLa cells to observe cell *** differences in signal pathway expression between the variant group and the wild-type group were compared using western blot and *** analysis was performed using one-way analysis of variance.PG(***297Gly)and c.733C>T(***245Phe)]in 9 unrelated PJS families who were seeking reproductive *** two missense VUS were located in the catalytic domain of serine/threonine kinase,which is a key structure of the liver kinase B1(LKB1)*** vitro experiments showed that the phosphorylation levels of adenosine monophosphate-activated protein kinase(AMPK)at Thr172 and LKB1 at Ser428 were significantly higher in transfected variation-type cells than in wild-type *** addition,the two missense STK11 variants promoted the proliferation of HeLa *** immunohistochemical analysis showed that phosphorylated-AMPK(Thr172)expression was significantly lower in gastric,colonic,and uterine polyps from PJS patients with misse

关键词： Missense STK11 Peutz-Jeghers syndrome Rare disease Genetic counseling Assisted reproductive technique

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Identification of a Novel Gene SRG4 Expressed at Specific Stages of Mouse Spermatogenesis

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Acta Biochimica et Biophysica Sinica 2004年第5期36卷 351-359页

作者： Xiao-Wei XING, lu-Yun LI, Gang LIU, Jun-Jiang FU, Xiao-Jun TAN, and guang-xiu lu* Human Reproduction and Stem Cell Engineering Institute, Central South University, Changsha 410078, China Human Reproduction and Stem Cell Engineering Institute Central South University

Spermatogenesis is a complex process. Two spermatocytes expression sequence tags (ESTs) BG101130 and BG100990 were found. Their putative amino acid sequences have high homology with rat Spag4 (sperm antigen 4). By electrical hybridization, a novel cDNA encoding polypeptide of 348 amino acid residues was identified from a mouse testis cDNA library. The new gene was designated as SRG4 (Spermatogenesis related gene 4) (GenBank accession No. AY307077). Results of Northern blot and RT- PCR revealed that SRG4 expressed specifically in mouse testis. Changes of SRG4 expression in mouse dif- ferent development stages were observed by RT-PCR. The SRG4 mRNA was hardly detected in 2 weeks postpartum, and expressed abundantly from 3 weeks later, reaching top lever at 4–5 weeks, while slightly down in aging mouse testis. Results of in situ hybridization showed that SRG4 gene expressed abundantly in spermatocytes, round spermatids. This indicated SRG4 gene may play an important role in mouse meiotic divisions of spermatocytes.

关键词： gene cloning testis tissues expression pattern in situ hybridization spermatogenesis

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A newly discovered mutation in PICK1 in a human with globozoospermia

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Asian Journal of Andrology 2010年第4期12卷 556-560页

作者： Gang Liu Qiu-Wen Shi guang-xiu lu Institute of Reproduction and Stem Cell Engineering Central South University Changsha 410078 China

Globozoospermia is a human infertility syndrome caused by spermatogenesis defects （OMIM 102530）. Acrosome plays an important role at the site of sperm-zonapellucida binding during the fertilization process. Thus, malformation of the acrosome is the most prominent feature seen in globozoospermia. Disruption of several mouse genes, including Gopc （Golgi-associated PDZ and coiled-coil motif containing protein）, Hrb （HIV-I Rev binding protein）, Csnk2α2 （casein kinase 2, α prime polypeptide） and Pick1 （protein interacting with C kinase 1）, results in a phenotype similar to globozoospermia in humans, which suggests their potential role in the disease. However, no mutations with a clear link to globozoospermia have been identified in these genes in humans. In this study, we screened the candidate genes men- tioned above in three globozoospermia type I patients and discovered a homozygous missense mutation （G198A） in exon 13 of the PICK1 gene in a Chinese family. The family member affected by this homozygous missense mutation showed a complete lack of acrosome. Using the candidate gene screening strategy, our study is the first to identify an autosomal recessive genetic mutation in PICK1 that was responsible for globozoospermia in humans.

关键词： acrosome globozoospermia PICK1

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Effect of intestinal ischemia-reperfusion injury on protein levels of leptin and orexin-A in peripheral blood and central secretory tissues

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World Journal of Gastroenterology 2005年第7期11卷 1000-1004页

作者： JiLin guang-TaoYan xiu-HuaHao lu-HuanWang KaiZhang HuiXue ResearchLaboratoryofBiochemistryBasicMedicalInstitute GeneralHospitalofPLA28FuxingRoadBeijing100853China

AIM: To explore the effect of intestinal ischemia-reperfusion injury on protein levels of leptin and orexin-A in peripheral blood and their central secretory tissues and to find out the role leptin and orexin-A play in acute inflammatory ***: An intestinal ischemia-reperfusion (I/R)injury model of rats was established and rats were divided randomly into six groups: sham-operation group, 60 min ischemia/30 min reperfusion group (I60'R30'), I60'R90',I60'R150', I60'R240' and I60'R360', 9 rats each *** highly-sensitive radioimmunoassays for leptin and orexin-A were established and used to check the change of their concentrations in peripheral blood and central secretory tissues before and after intestinal I/R ***: Compared with the serum leptin level before injury, it decreased significantly in I60'R30' group and increased significantly in I60'R360' group; compared to sham-operation group after injury, serum leptin level increased significantly in I60'R360' group; compared to sham-operation group after injury, adipose leptin levels decreased significantly in I60'R30' and I60'R90' groups,while increased significantly in I60'R360' group. There was no significant difference between the expression levels of orexin-A before and after I/R ***: Leptin has a time-dependent response and orexin-A has a delayed response to acute inflammatory stimuli such as intestinal I/R injury and they may participate in metabolic disorders in injury as inflammatory cytokines.

关键词： Ischemia-reperfusion Intestinal Leptin OrexinA Radioimmunoassay Inflammation Acute Cytokine

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Phenotypic and molecular characteristics of androgen insensitivity syndrome patients

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Asian Journal of Andrology 2018年第5期20卷 473-478页

作者： Shi-Min Yuan Ya-Nan Zhang Juan Du Wen Li Chao-Feng Tu Lan-Lan Meng Ge Lin guang-xiu lu Yue-Qiu Tan Reproductive and Genetic Hospital of Citic-Xiangya Changsha 410078 China Maternal and Child Health Hospital of Hunan Province Changsha 410078 China Institute of Reproduction and Stem Cell Engineering Central South University Changsha 410078 China

Androgen insensitivity syndrome （AIS）, an X-linked recessive genetic disorder of sex development, is caused by mutations in the androgen receptor （AR） gene, and is characterized by partial or complete inability of specific tissues to respond to androgens in individuals with the 46,XY karyotype. This study aimed to investigate AR gene mutations and to characterize genotype-phenotype correlations. Ten patients from unrelated families, aged 2-31 years, were recruited in the study. Based on karyotype, altered hormone profile, and clinical manifestations, nine patients were preliminarily diagnosed with complete AIS and one with partial AIS. Genetic analysis of AR gene revealed the existence of 10 different mutations, of which five were novel （c.2112 C〉G[***4R], c.2290T〉A[p.Y764N], c.2626C〉T[p.Q876X], c.933dupC[p.K313Qfs＊28], and c.1067delC[p.A356Efs＊123]）; the other five were previously reported （c.1789G〉A[p.A597T], c.2566C〉T[p.R856C], c.2668G〉A[p.V890M], c.2679C〉T[p.P893L], and c.1605C〉G[p.Y535X]）. Regarding the distribution of these mutations, 60.0% were clustered in the ligand-binding domain of AR gene. Exons 1 and 8 of AR gene each accounted for 30.0% （3/10） of all mutations. Most of the truncation mutations were in exon 1 and missense mutations were mainly located in exons 4-8. Our study expands the spectrum of AR gene mutations and confirms the usefulness of AR gene sequencing to support a diagnosis of AIS and to enable prenatal or antenatal screening.

关键词： androgen insensitivity syndrome androgen receptor disorder of sex development mutation

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Defects in phospholipase C zeta cause polyspermy and low fertilization after conventional IVF:not just ICSI failure

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Asian Journal of Andrology 2024年第2期26卷 175-182页

作者： Jian-Fang Che Hui-Xia Wu Si-Cong Zeng Yue-Ren Wu Jing Dai De-Hua Cheng Fei Gong guang-xiu lu Ge Lin Can Dai School of Medicine Hunan Normal UniversityChangsha 410013China Reproductive and Genetic Hospital of CITIC-Xiangya Changsha 410008China Clinical Research Center for Reproduction and Genetics in Hunan Province Changsha 410078China National Engineering and Research Center of Human Stem Cell Changsha 410205China

Phospholipase C zeta(PLC)is a key sperm-borne oocyte-activating factor that triggers Ca^(2+)oscillations and the subsequent block to polyspermy following gamete *** in PLCZ1,the gene encoding PLCζ,cause male infertility and intracytoplasmic sperm injection(ICSI)fertilization failure;and PLCζ expression and localization patterns are significantly correlated with ICSI fertilization rate(FR).However,in conventional in vitro fertilization(cIVF),whether and how sperm PLCζ affects fertilization remain ***,we identified one previously reported and two novel PLCZ1 mutations associated with polyspermy in vitro that are characterized by excessive sperm-zona binding and a delay in pronuclei(PN)*** staining and oocyte activation testing revealed that virtually all spermatozoa from patients lacked functional PLCζ and were thus unable to evoke Ca^(2+) *** with an artificial oocyte activation treatment successfully rescued the polyspermic phenotype and resulted in a live ***,we analyzed PLCζ in an additional 58 males after cIVF treatment in the Reproductive and Genetic Hospital of CiTiC-Xiangya(Changsha,China)between February 2019 and January *** found that the proportion of spermatozoa that expressed PLCζ was positively correlated with both 2PN rate and total *** optimal cutoff value below which males were likely to experience low FR(total FR≤30%)after clVF was 56.7%for the proportion of spermatozoa expressing *** study expands the mutation and the phenotypic spectrum of PLCZ1 and further suggests that PLCζ constitutes a promising biomarker for identifying low FRs cases in cIVF due to sperm-related oocyte activation deficiency and that sperm PLCζ analysis may benefit the widermale population and not onlymen with IcsI failure.

关键词： conventional IVF gene variants PLCζ polyspermy

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Sperm flagellar 2(SPEF2)is essential for sperm flagellar assembly in humans

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Asian Journal of Andrology 2022年第4期24卷 359-366页

作者： Dong-Yan Li Xiao-Xuan Yang Chao-Feng Tu Wei-Li Wang Lan-Lan Meng guang-xiu lu Yue-Qiu Tan Qian-Jun Zhang Juan Du Institute of Reproductive and Stem Cell Engineering School of Basic Medical ScienceCentral South UniversityChangsha 410078China Clinical Research Center for Reproduction and Genetics in Hunan Province Reproductive and Genetic Hospital of CITIC-XiangyaChangsha 410078China

Spermiogenesis is a complex and tightly regulated process,consisting of acrosomal biogenesis,condensation of chromatin,flagellar assembly,and disposal of extra *** studies have reported that sperm flagellar 2(SPEF2)deficiency causes severe asthenoteratozoospermia owing to spermiogenesis failure,but the underlying molecular mechanism in humans remains ***,we performed proteomic analysis on spermatozoa from three SPEF2 mutant patients to study the functional role of SPEF2 during sperm tail development.A total of 1262 differentially expressed proteins were detected,including 486 upregulated and 776 *** constructed heat map of the differentially expressed proteins showed similar *** these,the expression of proteins related to flagellar assembly,including SPEF2,sperm associated antigen 6(SPAG6),dynein light chain tctex-type 1(DYNLT1),radial spoke head component 1(RSPH1),translocase of outer mitochondrial membrane 20(TOM20),EF-hand domain containing 1(EFHC1),meiosis-specific nuclear structural 1(MNS1)and intraflagellar transport 20(IFT20),was verified by western *** clustering analysis indicated that these differentially expressed proteins were specifically enriched for terms such as spermatid development and flagellar ***,we showed that SPEF2 interacts with radial spoke head component 9(RSPH9)and IFT20 in vitro,which are well-studied components of radial spokes or intra-flagellar transport and are essential for flagellar *** results provide a rich resource for further investigation into the molecular mechanism underlying the role that SPEF2 plays in sperm tail development and could provide a theoretical basis for gene therapy in SPEF2 mutant patients in the future.

关键词： SPEF2 flagellar assembly male infertility protein interaction proteomics

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A rare polypyrimidine tract mutation in the androgen receptor gene results in complete androgen insensitivity syndrome

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Asian Journal of Andrology 2018年第3期20卷 308-310页

作者： Shi-Min Yuan Huan Huang Chao-Feng Tu Juan Du Da-Bao Xu Ge Lin guang-xiu lu Yue-Qiu Tan Institute of Reproduction and Stem Cell Engineering Central South University Changsha 410078 China Reproductive and Genetic Hospital of Citic-Xiangya Changsha 410078 China Department of Gynecology The Third Xiangya Hospital Central South University Changshe 410013 China

Dear Editor, Androgen insensitivity syndrome （AIS） is a common 46, XY disorder of sex development resulting from androgen resistance. AIS can be subdivided into three phenotypes according to the degree of external genital defects： complete AIS （CAIS）, with typical female external genitalia; partial AIS, with predominantly male or ambiguous external genitalia; and mild AIS, with typical male external genitalia. CAIS is the classical manifestation of AIS. Individuals affected by CAIS typically exhibit inguinal swellings during infancy or primary amenorrhea during puberty） AIS is usually caused by mutations in the androgen receptor （AR） gene.

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A recurrent mutation in TBPL2 causes diminished ovarian reserve and female infertility

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Journal of Genetics and Genomics 2020年第12期47卷 785-788页

作者： Wen-Bin He Ya-Xin Zhang Chen Tan Lan-Lan Meng Gang Liu Yuan Li Fei Gong Bai-Lin Wu guang-xiu lu Ge Lin Juan Du Yue-Qiu Tan Reproductive and Genetic Hospital of CITIC-Xiangya Changsha 410083China Institute of Reproductive and Stem Cell Engineering School of Basic Medical ScienceCentral South UniversityChangsha 410083China Clinical Research Center For Reproduction and Genetics In Hunan Province Changsha 410083China Boston Children's Hospital and Harvard Medical School BostonUSA

Diminished ovarian reserve(DOR)is a disorder of ovarian function in which the ovary loses its normal reproductive potential,including decreasing oocyte quantity and *** disorder is associated with infertility in women of reproductive age with regular menses and poor response to controlled ovarian hyperstimulation(Broekmans et al.,2009).

关键词： infertility stimulation al.

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A Modified Ultra-Long Downregulation Protocol Improves Pregnancy Outcomes in High Body Mass Index Patients Undergoing In vitro Fertilization/Intracytoplasmic Sperm Injection Treatment

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Reproductive and Developmental Medicine 2020年第3期4卷 156-162页

作者： Hui-Jun Chen Yuan Li Xiao-Feng Li Ge Lin guang-xiu lu Fei Gong Institute of Reproductive and Stem Cell Engineering Basic Medicine CollegeCentral South UniversityChangsha 410000China Reproductive Center Reproductive and Genetic Hospital of CITIC-XIANGYAChangsha 410000China Key Laboratory of Reproductive and Stem Cell Engineering Ministry of HealthChangsha 410000China

Objective:Overweight and obesity are increasingly epidemic and negatively related to reproductive *** aim of this study was to investigate the advantages of a modified ultra-long downregulation protocol on pregnancy outcomes of patients with high body mass index(BMI)undergoingin vitro fertilization(IVF)/intracytoplasmic sperm injection(ICSI),compared to the long protocol(LP).Methods:We retrospectively analyzed the clinical data of 3,920 infertile patients at the Reproductive and Genetic Hospital of Citic-Xiangya from January 2012 to December 2017 by propensity score matching(PSM).Patients were divided into two groups:modified ultra-LP(MULP)(n=1,960)and LP(n=1,960).Results:In the MULP group,live birth rate(52.65%vs.46.79%,P<0.001,odds ratio[OR]:1.784,95%confidence interval[CI]:1.563-2.036),clinical pregnancy rate(62.50%vs.57.91%,P=0.003,OR:1.211,95%CI:1.066-1.377),and implantation rate(53.24%vs.49.65%,P=0.004,OR:1.155,95%CI:1.048-1.272)were statistically significantly higher than those of the LP ***,the cycle cancellation rates(12.70%vs.15.15%,P=0.027,OR:0.815,95%CI:0.68-0.977),abortion rates(12%vs.14.8%,P=0.046,OR:0.785,95%CI:0.619-0.996),and ectopic pregnancy rates(1.06%vs.2.11%,P=0.04,OR:0.497,95%CI:0.252-0.98)were lower than those in the LP ***:The modified ultra-long downregulation protocol improved the pregnancy outcomes in patients with high BMI undergoing IVF/ICSI treatment,providing a potential option for physicians when deciding an optimized ovary stimulation protocol for high BMI patients.

关键词： Endometrial Receptivity High Body Mass Index In vitro Fertilization/Intracytoplasmic Sperm Injection Modified Ultra-Long Protocol Pregnancy Outcome

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