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Atypical pituitary hormone–target tissue axis

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Frontiers of Medicine 2023年第1期17卷 1-17页

作者： Chao Xu Zhao He Yongfeng Song Shanshan Shao Guang Yang Jiajun Zhao Department of endocrinology and metabolism Shandong Provincial Hospital Affiliated to Shandong First Medical UniversityJinan 250021China Department of endocrinology and metabolism Shandong Provincial HospitalCheeloo College of MedicineShandong UniversityJinan 250021China Beijing institute of Tropical Medicine Beijing Friendship HospitalCapital Medical UniversityBeijing 100050China

A long-held belief is that pituitary hormones bind to their cognate receptors in classical target glands to actuate their manifold ***,a number of studies have shown that multiple types of pituitary hormone receptors are widely expressed in non-classical target *** pituitary gland-derived hormone exhibits a wide range of nonconventional biological effects in these non-classical target ***,the extra biological functions of pituitary hormones,thyroid-stimulating hormone,follicle-stimulating hormone,luteinizing hormone,adrenocorticotrophic hormone,and prolactin when they act on non-classical organs were summarized,defined by the novel concept of an“atypical pituitary hormone–target tissue axis.”This novel proposal explains the pathomechanisms of abnormal glucose and lipid metabolism,obesity,hypertension,fatty liver,and atherosclerosis while offering a more comprehensive and systematic insights into the coordinated regulation of environmental factors,genetic factors,and neuroendocrine hormones on human biological *** continued exploration of the physiology of the“atypical pituitary hormone–target tissue axis”could enable the identification of novel therapeutic targets for metabolic diseases.

关键词： thyroid-stimulating hormone follicle-stimulating hormone luteinizing hormone adrenocorticotrophic hormone prolactin

Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia

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World Journal of Pediatrics 2017年第4期13卷 381-386页

作者： Lian-Shu Han Zhuo Huang Feng Han Yu Wang Zhu-Wen Gong Xue-Fan Gu Department of Pediatric endocrinology and Genetic metabolism Xinhua HospitalShanghai Institute for Pediatric ResearchShanghai Jiaotong University School of MedicineShanghaiChina

Background:Isolated methylmalonic acidemia is a rare autosomal recessive metabolic disorder mostly caused by mutations in the methylmalonyl coenzyme A mutase (MCM) gene (MUT).This study aimed to verify whether missense mutations in MUT in Chinese patients affect the stability and enzymatic activity of ***:Eight Chinese patients were identified with novel *** carrying the wild-type and mutated MUT cDNA were constructed and transfected into HEK293T cells for functional *** expression and activity of MCM were determined by western blot and ultra-performance liquid chromatography,***:All patients had high levels of blood propionylcarnitine and urinary methylmalonyl *** the end of the study,two patients were lost to follow-up,three died,and three survived with mental *** to the wild-type protein,the expression levels of all missense mutations of in vitro MCM protein were decreased (P<0.05) except those for I597R,and the MCM activity of the mutations was reduced in a permissive ***:The missense mutations L140P,A141T,G161V,W309G,I505T,Q514K,I597R and G723D affected the stability and enzymatic activity of MCM,indicating that they had a disease-causing capacity.

关键词： methylmalonic acid methylmalonic acidemia methylmalonyl-CoA mutation missense mutation

Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia:identification of ten novel allelic variants

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World Journal of Pediatrics 2015年第4期11卷 358-365页

作者： Lian-Shu Han Zhuo Huang Feng Han Jun Ye Wen-Juan Qiu Hui-Wen Zhang Yu Wang Zhu-Wen Gong Xue-Fan Gu Department of Pediatric endocrinology and Genetic metabolism Xinhua HospitalShanghai Institute for Pediatric ResearchShanghai Jiaotong University School of MedicineShanghaiChina

Background: This study aims to study MUT gene mutation spectrum in Chinese patients with isolated methylmalonic academia (MMA) and their clinical features for the potential genotype-phenotype correlation. Methods: Forty-three patients were diagnosed with isolated MMA by elevated blood propionylcarnitine, propionylcarnitine to acetylcarnitine ratio, and urine methylmalonate without hyperhomocysteinemia. The MUT gene was amplifi ed by polymerase chain reaction and directly sequenced. Those patients with at least one variant allele were included. The novel missense mutations were assessed by bioinformatic analysis and screened against alleles sequenced from 50 control participants. Results: Among the 43 patients, 38 had typical clinical presentations, and the majority (30/38) experienced early-onset MMA. Eight patients died and seven were lost to follow-up. Twenty patients had poor outcomes and eight showed normal development. The 43 identified MUT gene mutations had at least one variant allele, whereas 35 had two mutant alleles. Of the 33 mutations reported before, eight recurrent mutations were identified in 32 patients, and c.729_730insTT (p.D244Lfs*39) was the most common (12/78) in the mutant alleles. Of the 10 novel mutations, six were missense mutations and four were premature termination codon mutations. The six novel missense mutations seemed to be pathogenic. Conclusions: A total of 10 novelMUT mutations were detected in the Chinese population. c.729_730insTT (p.D244Lfs*39) was the most frequent mutation. A genotype-phenotype correlation could not be found, but the genotypic characterization indicated the need of genetic counseling for MMA patients and early prenatal diagnoses for high-risk families.

关键词： methylmalonic acidemia missense mutation MUT gene

Targeting hepatic ceruloplasmin mitigates nonalcoholic steatohepatitis by modulating bile acid metabolism

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Journal of Molecular Cell Biology 2023年第9期15卷 53-68页

作者： Quanxin Jiang Ning Wang Sĳia Lu Jie Xiong Yanmei Yuan Junli Liu Suzhen Chen Shanghai Diabetes institute Department of Endocrinology and MetabolismShanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of MedicineShanghai 200233China

Nonalcoholic steatohepatitis(NASH)is a condition that progresses from nonalcoholic fatty liver disease(NAFLD)and is characterized by hepatic fat accumulation,inflammation,and *** has the potential to develop into cirrhosis and liver cancer,and currently no effective pharmacological treatment is *** this study,we investigate the therapeutic potential of targeting ceruloplasmin(Cp),a copper-containing protein predominantly secreted by hepatocytes,for treating *** result show that hepatic Cp is remarkedly upregulated in individuals with NASH and the mouse NASH ***-specific Cp ablation effectively attenuates the onset of dietary-induced NASH by decreasing lipid accumulation,curbing inflammation,mitigating fibrosis,and ameliorating liver *** employing transcriptomics and metabolomics approaches,we have discovered that hepatic deletion of Cp brings about remarkable restoration of bile acid(BA)metabolism during *** deletion of Cp effectively remodels BA metabolism by upregulating Cyp7a1 and Cyp8b1,which subsequently leads to enhanced BA synthesis and notable alterations in BA *** conclusion,our studies elucidate the crucial involvement of Cp in NASH,highlighting its significance as a promising therapeutic target for the treatment of this disease.

关键词： ceruloplasmin nonalcoholic steatohepatitis bile acid inflammation fibrosis

Deleterious variants in RNF111 impair female fertility and induce premature ovarian insufficiency in humans and mice

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Science China(Life Sciences) 2024年第7期67卷 1325-1337页

作者： Chengcheng Song Yingying Qin Yan Li Bingyi Yang Ting Guo Wenqing Ma Dian Xu Keyan Xu Fangfang Fu Li Jin Yanhua Wu Shuyan Tang Xiaojun Chen Feng Zhang Obstetrics and Gynecology Hospital State Key Laboratory of Genetic EngineeringInstitute of Medical Genetics and GenomicsFudan UniversityShanghai 200011China Human Phenome institute Zhangjiang Fudan International Innovation CenterFudan UniversityShanghai 201203China Center for Reproductive Medicine Cheeloo College of MedicineShandong UniversityJinan 250021China State Key Laboratory of Reproductive Medicine and Offspring Health Key Laboratory of Reproductive Endocrinology of Ministry of EducationNational Research Center for Assisted Reproductive Technology and Reproductive GeneticsShandong Key Laboratory of Reproductive MedicineShandong Provincial Clinical Research Center for Reproductive HealthShandong UniversityJinan 250021China Department of Obstetrics and Gynecology Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China National Demonstration Center for Experimental Biology Education School of Life SciencesFudan UniversityShanghai 200433China Department of Gynecology the Tenth People’s Hospital of Tongji UniversityShanghai 200072China Soong Ching Ling institute of Maternity and Child Health International Peace Maternity and Child Health Hospital of China Welfare InstituteShanghai 200030China

Premature ovarian insufficiency(POI)is a heterogeneous female disorder characterized by the loss of ovarian function before the age of *** represents a significant detriment to female ***,the known POI-causative genes currently account for only a fraction of *** elucidate the genetic factors underlying POI,we conducted whole-exome sequencing on a family with three fertile POI patients and identified a deleterious missense variant in *** a subsequent replication study involving 1,030 POI patients,this variant was not only confirmed but also accompanied by the discovery of three additional predicted deleterious RNF111 *** variants collectively account for eight cases,representing 0.78%of the study cohort.A further study involving 500 patients with diminished ovarian reserve also identified two additional RNF111 ***,RNF111 encodes an E3 ubiquitin ligase with a regulatory role in the TGF-β/BMP signaling *** analysis revealed that RNF111/RNF111 is predominantly expressed in the oocytes of mice,monkeys,and *** further investigate the functional implications of RNF111 variants,we generated two mouse models:one with a heterozygous missense mutation(Rnf111+/M)and another with a heterozygous null mutation(Rnf111^(+/-)).Both mouse models exhibited impaired female fertility,characterized by reduced litter sizes and small ovarian ***,RNA-seq and quantitative proteomics analysis unveiled that Rnf111 haploinsufficiency led to dysregulation in female gonad development and negative regulation of the BMP signaling pathway within mouse *** conclusion,our findings strongly suggest that monoallelic deleterious variants in RNF111 can impair female fertility and induce POI in both humans and mice.

关键词： POI RNF111 female fertility ovarian reserve

Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy

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World Journal of Pediatrics 2015年第4期11卷 366-373页

作者： Shan-Shan Chu Jun Ye Hui-Wen Zhang Lian-Shu Han Wen-Juan Qiu Xiao-Lan Gao Xue-Fan Gu Department of Pediatric endocrinology and Genetic metabolism Shanghai Institute for Pediatric ResearchXinhua HospitalShanghai Jiao Tong University School of MedicineShanghaiChina

Background:X-linked adrenoleukodystrophy(X-ALD)is a fatal neurodegenerative disease caused by mutations in the adenosine triphosphate-binding cassette D1(ABCD1)*** study aimed to retrospectively investigate the clinical characteristics of 25 patients with X-ALD including members of large pedigrees,to analyze ABCD1 gene mutations,the effect of gene novel variants on ALD protein(ALDP)structure and function,and to expand gene mutation spectrum of Chinese ***:Twenty-five male patients diagnosed with X-ALD were enrolled in this *** clinical characteristics of the patients were retrospectively summarized by reviewing medical records or telephone ***1 gene mutations were *** pathogenicity of novel missense variants was analyzed using cobalt constraint-based multiple protein alignment tool,polymorphism phenotyping,sorting intolerant from tolerant,Align-Grantham variation and Grantham deviation,and Swiss-Program Database Viewer 4.04 software,***:Childhood cerebral form ALD(CCALD)is the most common phenotype(64%)in the 25 patients with *** progressive deterioration of neurological and cognitive functions is the main clinical *** demyelination of the brain white matter and elevated plasma very long chain fatty acids(VLCFAs)were found in all *** phenotypes were also presented within family members of the ***-two different mutations including 8 novel mutations in the ABCD1 gene were identifi ed in the 25 *** the mutations,63.6%were missense mutations and 34.8%located in exon *** amino acid residues of three novel missense mutations in eight species were highly conserved,and were predicted to be"probably"damaging to ALDP *** other five novel mutations were splice,nonsense,deletion or duplication ***:CCALD is the most common phenotype(64%)in our patients with *** novel mutations in the ABCD1 gene identifi ed are disease-causing muta

关键词： ABCD1 protein adrenoleukodystrophy adrenoleukodystrophy protein missense variant mutation

Relationship between the rs2241766 ADIPOQ Polymorphism in a Black African Population and the Occurrence of Type 2 Diabetes

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American Journal of Molecular Biology 2024年第2期14卷 97-106页

作者： Aude Syntia Mbang Bengone Rosalie Nikiema-Ndong Elisabeth Lendoye Alvine Sibylle Batou Edwige Nnegue Edzo Serge Bekale Daniela Nsame Frédéric Da Dari Félix Ovono Abessolo Department of Chemistry-Biochemistry Faculty of Medicine University of Health Sciences Libreville Gabon Laboratory of Research in Biochemistry (LAREBIO) University of Sciences and Technology of Masuku Franceville Gabon endocrinology Department University Hospital of Libreville Libreville Gabon Research institute of Health Sciences Bobodioulasso Burkina Faso

Background: Type 2 diabetes mellitus (T2DM) is a metabolic disease, characterized by chronic hyperglycemia. This pathology is linked to various genes whose interaction with the environment promotes its development. The aim of this work was to determine the relationship between the rs2241766 (T/G) polymorphism of the ADIPOQ gene with type 2 diabetes in the black population. Material and Methods: This work was a case-control study, involving type 2 diabetics subjects (n = 94) and controls (n = 82). The study took place from September 2022 to September 2023. Patients were recruited in the endocrinology Department of the Libreville University Hospital Center. Analysis was performed in the Biochemistry laboratory of the University of Health Sciences in Libreville and at the Research institute of Health Sciences of Bobodioulasso. Genomic DNA was extracted using the protocol Qiagen kit and the PCR-RFLP method was used to determine the rs2241766 (T/G) polymorphism of the ADIPOQ gene. Results: Only 2 genotypes were found in this population, the TT genotype and the GT genotype. The proportions were not different between the two groups (p = 0.1095) neither the distribution of G and T alleles (p = 0.1095). On the other hand, the HDL hypocholesterolemia was frequent in subjects with the GT genotype compared to TT heterozygous (51.1% vs 48.9%, p = 0.0280;OR = 0.55 [0.30 - 1.01]). Conclusion: There was no association between the rs2241766 (T/G) variant of the ADIPOQ gene and the occurrence of type 2 diabetes in this population. On the other hand, a relationship between HDL hypocholesterolemia and the GT genotype has been established.

关键词： Type 2 Diabetes Mellitus Polymorphism rs2241766 ADIPOQ PCR-RFLP

QDPR gene mutation and clinical follow-up in Chinese patients with dihydropteridine reductase deficiency

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World Journal of Pediatrics 2014年第3期10卷 219-226页

作者： De-Yun Lu Jun Ye Lian-Shu Han Wen-Juan Qiu Hui-Wen Zhang Jian-De Zhou Pei-Zhong Bao Ya-Fen Zhang Xue-Fan Gu Department of Pediatric endocrinology and Genetic metabolism and Shanghai institute for Pediatric Research Xinhua HospitalShanghai Jiaotong University School of MedicineShanghai 200092China

Background:This study aimed to investigate the mutation spectrum of the QDPR gene,to determine the effect of mutations on dihydropteridine reductase(DHPR)structure/function,to discuss the potential genotype-phenotype correlation,and to evaluate the clinical outcome of Chinese patients after ***:Nine DHPR-deficient patients were enrolled in this study and seven of them underwent neonatal *** gene mutations were analyzed and confi rmed by routine *** potential pathogenicity of missense variants was analyzed using Clustal X,PolyPhen program and Swiss-PDB Viewer 4.04_OSX software,*** clinical outcomes of the patients were evaluated after long-term ***:In 10 mutations of the 9 patients,4 were novel mutations(G20V,V86D,G130S and A175R),4 were reported by us previously,and 2 known mutations were identified.R221X was a hotspot mutation(27.7%)in our *** missense mutations probably had damage to *** patients in this series were treated with a good control of phenylalanine *** height and weight of the patients were normal at the age of 4 months to 7.5 *** patients,who underwent a neonatal screening and were treated early,showed a normal mental *** 2 patients diagnosed late,neurological symptoms were signifi cantly ***:The mutation spectrum of the QDPR gene is different in the Chinese *** mutations are related to severe *** determination of DHPR activity should be performed in patients with ***-defi cient patients who were treated below the age of 2 months may have a near normal mental development.

关键词： dihydropteridine reductase hyperphenylalaninaemia tetrahydrobiopterin

Fibroblast growth factor 21:a novel metabolic regulator from pharmacology to physiology

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Frontiers of Medicine 2013年第1期7卷 25-30页

作者： Huating Li Jing Zhang Weiping Jia Department of endocrinology and metabolism Shanghai Jiao Tong University Affiliated Sixth People’s HospitalShanghai Diabetes InstituteShanghai Clinical Center of DiabetesShanghai 200233China

Fibroblast growth factor 21(FGF21)is a member of the fibroblast growth factor *** actually functions as endocrine hormones but does not regulate cell growth and *** is demonstrated that FGF21 acts on multiple tissue to coordinate carbohydrate and lipid metabolism,including enhancing insulin sensitivity,decreasing triglyceride concentrations,causing weight loss,ameliorating obesity-associated hyperglycemia and ***,FGF21 also plays important roles in some physiological processes,such as fasting and feeding,growth hormone axis and thermogenic function of brown adipose *** relevance of FGF21 in humans is still unclear,and the basis and consequences of increased FGF21 in metabolic disease remain to be *** the pharmacological actions and physiological roles make FGF21 attractive drug candidates for treating metabolic disease,but some questions remain to be *** article concentrates on recent advances in our understanding of FGF21.

关键词： FGF21 metabolism pharmacology physiology clinical relevance