Molecular Genetics of Adrenocortical and Related Disorders
肾上腺皮质及相关疾病的分子遗传学
基本信息
- 批准号:6108023
- 负责人:
- 金额:--
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:
- 资助国家:美国
- 起止时间:至
- 项目状态:未结题
- 来源:
- 关键词:
项目摘要
mmary of Work: The goal of this work is to
understand the genetic and molecular mechanisms leading to
disorders that affect the adrenal cortex, with emphasis on those that
are hereditary and associated with multiple tumors and
abnormalities in other endocrine glands (i.e. the pituitary gland) and
tissues of neuroectodermal origin (i.e. the melanocytes). Our
laboratory has studied families with Carney complex (CC) (also
known as the icomplex of myxomas, spotty skin pigmentation,
endocrine overactivity and schwannomasi) and related syndromes.
Through genetic linkage analysis two genomic loci harboring genes
for CC have been identified on human chromosomes 2 and 17
(corresponding to cytogenetic bands 2p15-16 and 17q21-22,
respectively). A comprehensive genetic and physical map of the
2p16 chromosomal region is currently under construction for
the cloning of CC-causing gene(s), through meiotic and radiation
hybrid analysis of sequence tagged sites (STS) cloned from
this genomic area and the synthesis of yeast and bacterial artificial
chromosomes (YAC/BAC) contig that cover 10 Mb on
2p15-16. Through studies in cultured primary tumor cell lines
established from our patients a region of amplification has been
identified in the center of this contig; 4 novel genes (with unknown
function) have been identified and are currently being
screened for mutations in patients with CC and other disorders
mapped in the area. In collaboration with Mayo Clinic, the
genetic defects in patients with CC-related syndromes (i.e.
Peutz-Jeghers syndrome) are being identified. Genome wide
screens are also ongoing in our laboratory for the identification of
childhood adrenocortical cancer-related genes and the
gene(s) responsible for inherited adrenocortical aldosteronomas
(familial hyperaldosteronism type-II)."
工作的合法:这项工作的目的是
了解导致的遗传和分子机制
影响肾上腺皮质的疾病,重点是
是遗传性的,与多个肿瘤有关,
其他内分泌腺(即垂体)和
神经外胚层起源的组织(即黑素细胞)。我们的
实验室研究了卡尼建筑群(CC)的家庭(也是
被称为粘液瘤的Icomplex,斑点的皮肤色素沉着,
内分泌过度活动和schwannomasi)和相关综合征。
通过遗传连锁分析两个基因组基因座基因
对于CC已在人类染色体2和17上鉴定
(对应于细胞遗传带2P15-16和17q21-22,
分别)。全面的遗传和物理图
2P16染色体区域目前正在建设中
通过减数分裂和辐射的克隆引起CC的基因的克隆
序列标记位点(STS)的混合分析。
这个基因组区域以及酵母和细菌人造的合成
覆盖10 MB的染色体(YAC/BAC)重叠群
2P15-16。通过对培养的原发性肿瘤细胞系的研究
从我们的患者建立一个扩增的区域
在此重叠群的中心确定; 4个新型基因(未知
功能)已被确定,目前正在
筛选出CC和其他疾病患者的突变
在该地区映射。与梅奥诊所合作
CC相关综合征患者的遗传缺陷(即
Peutz-Jeghers综合征正在鉴定。基因组宽
我们的实验室也正在进行屏幕以识别
儿童肾上腺皮质相关的基因和
负责遗传性肾上腺皮质醛固纳的基因
(家族性高醛型II)。”
项目成果
期刊论文数量(0)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(2)
数据更新时间:{{ journalArticles.updateTime }}
{{
item.title }}
{{ item.translation_title }}
- DOI:
{{ item.doi }} - 发表时间:
{{ item.publish_year }} - 期刊:
- 影响因子:{{ item.factor }}
- 作者:
{{ item.authors }} - 通讯作者:
{{ item.author }}
数据更新时间:{{ journalArticles.updateTime }}
{{ item.title }}
- 作者:
{{ item.author }}
数据更新时间:{{ monograph.updateTime }}
{{ item.title }}
- 作者:
{{ item.author }}
数据更新时间:{{ sciAawards.updateTime }}
{{ item.title }}
- 作者:
{{ item.author }}
数据更新时间:{{ conferencePapers.updateTime }}
{{ item.title }}
- 作者:
{{ item.author }}
数据更新时间:{{ patent.updateTime }}
Constantine A. Stratakis其他文献
Mesangiocapillary glomerulonephritis.
系膜毛细血管性肾小球肾炎。
- DOI:
- 发表时间:
1992 - 期刊:
- 影响因子:13.6
- 作者:
Mark Oette;M. Stone;H. Scholl;P. C. Issa;Monika Fleckenstein;S. Schmitz;F. Holz;Olaf Strauss;J. Schulzke;M. Fromm;Tommie V. McCarthy;M. Schiller;Stephan Grabbe;Cord Sunderkötter;G. Almogy;Avraham I. Rivkind;Hideaki E. Kato;J. W. Finley;J. Uhl;Jürgen Kopitz;M. Cantz;P. Giampietro;I. Harting;Nicole I. Wolf;Jürgen Grabbe;R. Beynon;R. Quinlivan;Caroline A. Sewry;Naoto Kuroda;C. Korkmaz;A. Bleyer;Thomas C. Hart;M. Bisceglia;C. Galliani;Stefan Pfister;O. Witt;Alexander K. C. Leung;J. Hellemans;Geert Mortier;M. Schmitt;Markus Pfister;H. Zenner;Markus Riemenschneider;G. Reifenberger;Julian F.B. Mercer;S. Fontaine;Ingrid Moll;Bruce C. Kone;S. Dahl;P. Schwarz;Jiang Li;Volkmar Gieselmann;D. Geneviève;M. Merrer;J. Schnog;V. Gerdes;Katrin Beyer;Elardus Erasmus;Lodewyk J. Mienie;J. Bubeník;Jana Šímová;Thorsten Buch;A. Schulz;I. Förster;Shirley Hodgson;H. Sudhoff;P. Goadsby;K. Jurkat;F. Lehmann;J. Logan;B. McGuinness;Maria Isabel Melaragno;M. F. Galera;H. R. Hegde;Hannu Jalanko;M. Molnár;D. Liolitsa;C. Dejthevaporn;Michael G. Hanna;Josef Finsterer;Yukichi Goto;Lucia K. Ma;Patrick T. S. Ma;T. Nishikimi;Siobhan D. Ma;A. Rozelle;E. Chakravarty;Stefan R. Bornstein;S. Schinner;M. Duran;W. Robson;Christine Liang;Julie V. Schaffer;C. Plesa;Franck E. Nicolini;E. Sibley;V. Oji;H. Traupe;D. Bailey;H. Mairbäurl;P. Bärtsch;Alexander K. C. Leung;J. Fong;Michael Beck;S. Hofmann;Leena Bruckner‐Tuderman;D. Metze;R. Hämäläinen;Anna;M. Lipsanen‐Nyman;Constantine A. Stratakis;F. Marini;A. Falchetti;M. L. Brandi;Christian Bender Koch;Constantine A. Stratakis;Michael Briggs;W. Wuyts;Filip Vanhoenacker;W. Hul;H. Tumani;Kurt von Figura;Thomas Dierks;Bernhard Schmidt;Luca Busetto;Giuliano Enzi;Thomas Klockgether;I. Stefanidis;G. Hadjigeorgiou;K. Zerres;S. Rudnik;H. Gdynia;A. Sperfeld;E. Hoffman;R. B. Yaou;G. Bonne;D. Récan;P. Hackman;B. Udd;Wolfgang Dietmaier;A. Hartmann;D. Prié;C. Silve;B. Grandchamp;G. Friedlander;A. G. Engel;W. Kempf;R. Dummer;G. Burg;D. Cilloni;G. Saglio;U. Schuler;U. Bacher;C. Haferlach;Susanne Schnittger;Torsten Haferlach;Reginald S. Sauve;Deepak Kamat;S. Makoni;R. Sabina;Benjamin D. Tyrrell;Justin A. Ezekowitz;W. Schillinger;Gerd Hasenfuss;K. Bonney;D. Engman;T. Klopstock;F. Asmus;T. Gasser;D. Zand;E. Zackai;Frank Schaeffel;A. Oldfors;N. Darín;Tom Martinsson;U. Knirsch;G. Stoltenburg;Olayinka Raheem;Tiina Suominen - 通讯作者:
Tiina Suominen
Rapid eye movement sleep correlates with the overall activities of the hypothalamic-pituitary-adrenal axis and sympathetic system in healthy humans.
快速眼动睡眠与健康人的下丘脑-垂体-肾上腺轴和交感系统的整体活动相关。
- DOI:
10.1210/jcem.82.10.4307 - 发表时间:
1997 - 期刊:
- 影响因子:0
- 作者:
A. Vgontzas;E. Bixler;D. Papanicolaou;Anthony Kales;Constantine A. Stratakis;A. Vela‐bueno;P. W. Gold;G. P. Chrousos - 通讯作者:
G. P. Chrousos
78 - Obesity and the Diagnostic Accuracy for Primary Aldosteronism
- DOI:
10.1016/j.jcjd.2017.08.086 - 发表时间:
2017-10-01 - 期刊:
- 影响因子:
- 作者:
Fady Hannah-Shmouni;Amit Tirosh;Charalampos Lyssikatos;Elena Belyavskaya;Mihail Zilbermint;Smita B. Abrahammaya;B. Lodish;Constantine A. Stratakis - 通讯作者:
Constantine A. Stratakis
Premature adrenal cortical dysfunction in mandibuloacral dysplasia: a progeroid-like syndrome.
下颌骨发育不良引起的过早肾上腺皮质功能障碍:一种早衰样综合征。
- DOI:
- 发表时间:
2000 - 期刊:
- 影响因子:0
- 作者:
David Ng;Constantine A. Stratakis - 通讯作者:
Constantine A. Stratakis
Linkage analysis of familial hyperaldosteronism type II--absence of linkage to the gene encoding the angiotensin II receptor type 1.
家族性 II 型醛固酮增多症的连锁分析——与编码 1 型血管紧张素 II 受体的基因不存在连锁。
- DOI:
10.1210/jcem.83.3.4668-10 - 发表时间:
1998 - 期刊:
- 影响因子:0
- 作者:
David J. Torpy;Constantine A. Stratakis;R. Gordon - 通讯作者:
R. Gordon
Constantine A. Stratakis的其他文献
{{
item.title }}
{{ item.translation_title }}
- DOI:
{{ item.doi }} - 发表时间:
{{ item.publish_year }} - 期刊:
- 影响因子:{{ item.factor }}
- 作者:
{{ item.authors }} - 通讯作者:
{{ item.author }}
{{ truncateString('Constantine A. Stratakis', 18)}}的其他基金
Molecular Genetics of Adrenocortical Tumors and Related
肾上腺皮质肿瘤及相关肿瘤的分子遗传学
- 批准号:
6432531 - 财政年份:
- 资助金额:
-- - 项目类别:
Molecular Genetics Of Adrenocortical Tumors And Related
肾上腺皮质肿瘤及相关肿瘤的分子遗传学
- 批准号:
6664171 - 财政年份:
- 资助金额:
-- - 项目类别:
Molecular Genetics Of Adrenocortical Tumors And Related Disorders
肾上腺皮质肿瘤及相关疾病的分子遗传学
- 批准号:
8351115 - 财政年份:
- 资助金额:
-- - 项目类别:
相似海外基金
Regulation of paraspeckles by STAU1 in neurodegenerative disease
STAU1 在神经退行性疾病中对 paraspeckles 的调节
- 批准号:
10668027 - 财政年份:2023
- 资助金额:
-- - 项目类别:
Therapeutic rescue of Polycystin-1 protein expression by targeting PKD1 upstream open reading frames
通过靶向 PKD1 上游开放阅读框来治疗性挽救 Polycystin-1 蛋白表达
- 批准号:
10575251 - 财政年份:2023
- 资助金额:
-- - 项目类别:
Tumor cell instrinsic DNA damage signaling to the immune response
肿瘤细胞内在 DNA 损伤向免疫反应发出信号
- 批准号:
10626282 - 财政年份:2023
- 资助金额:
-- - 项目类别:
Modelling mechanisms of progressive chronic kidney disease in APOL1 high-risk live-donors using BAC-Transgenic mice
使用 BAC 转基因小鼠模拟 APOL1 高危活体供体的进行性慢性肾病的机制
- 批准号:
10726804 - 财政年份:2023
- 资助金额:
-- - 项目类别: