Tools

LEADER 03766ctm 2200541 i 4500

001 ocm26236461;

003 OCoLC;

005 20250721152915.0;

008 920722s1992 xx a bm 000 0 eng d;

035 a| (Sirsi) o26236461;

035 a| (OCoLC)26236461;

049 a| EREE;

050 4 a| QP572.T5b| M64x 1992;

100 1 a| Menke, Jay B.,e| author.?| UNAUTHORIZED;

245 12 a| A Homozygous deletion in the C-erbA-beta thyroid hormone receptor gene in a patient with generalized thyroid hormone resistance :b| isolation and characterization of the mutant receptor /c| by Jay B. Menke.;

264 0 c| 1992.;

300 a| iv, 49 leaves :b| illustrations ;c| 28 cm;

336 a| textb| txt2| rdacontent;

337 a| unmediatedb| n2| rdamedia;

338 a| volumeb| nc2| rdacarrier;

502 b| M.S.c| East Carolina Universityd| 1992;

500 a| Submitted to the faculty of the Department of Biology.;

500 a| Advisor: Stephen J. Usala;

500 a| Advisor: Wendall E. Allen;

520 3 a| Different point mutations have been identified in the T3-binding domain of the C-erbA-beta thyroid hormone receptor gene that are associated with variant phenotypes of generalized resistance to thyroid hormone (GRTH). A novel genetic abnormality has been identified in the T3- binding domain of the beta-receptor in a Kindred S. One patient, S1, was homozygous for this defect. Heterozygotes from Kindred S harbored a CAC-deletion at nucleotides 1295-1297 in one allele which resulted in the deduced loss of threonine at codon 332. Patient S1 had two mutant alleles for the same deletion mutation. A fibroblast C-erbA-beta cDNA was cloned from patient SI and was used to create a full-length mutant cDNA. The Kindred S mutant receptor was synthesized in vitro and did not bind T3, but did bind to thyroid hormone response elements (Wondisford et al., 1990) . These properties can account for the dominant negative activity of the Kindred S receptor. This study demonstrates the crucial role of C-erbA-beta in mediating thyroid hormone action in man. Furthermore, The homozygous genotype demonstrates a role for C-erbA-alpha, another T3 hormone gene receptor, not linked to GRTH.;

504 a| Includes bibliographical references (leaves 44-49).;

500 a| Abstract title reads: A homogygous deletion in the C-erbA-beta thyroid hormone receptor gene in a patient with generalized resistance to thyroid hormone.;

650 0 a| Thyrotropin.=| ^A291116;

650 0 a| Thyroid hormones.=| ^A1501;

650 7 a| Thyroid hormones.2| fast0| (OCoLC)fst01150595;

650 7 a| Thyrotropin.2| fast0| (OCoLC)fst01150609;

655 7 a| dissertations.2| aat0| (CStmoGRI)aatgf300028029;

655 7 a| Academic theses.2| fast0| (OCoLC)fst01726453;

655 7 a| Academic theses.2| lcgft;

655 7 a| Thèses et écrits académiques.2| rvmgf0| (CaQQLa)RVMGF-000001173;

700 1 a| Usala, Stephen J.,e| degree supervisor.?| UNAUTHORIZED;

700 1 a| Allen, Wendall E.,e| degree supervisor.?| UNAUTHORIZED;

710 2 a| East Carolina University.b| Department of Biology.=| ^A637467;

856 41 z| Access via ScholarShipu| http://hdl.handle.net/10342/12601;

949 a| Click on web addressw| asish| joyner101;

949 a| Click on web addressw| asish| hsl111;

994 a| C0b| ERE;

596 a| 1 4;

998 a| 426224;

999 a| ASK AT SPECIAL COLLECTIONS DESKw| ASISc| 1i| 682044d| 9/27/2001l| JSCJTHDm| JOYNERr| Ys| Yt| JSCJTHDu| 9/27/2001x| ETDz| JSPECCOLLo| .STAFF. 0;

999 a| CLICK ON WEB ADDRESSw| ASISc| 1i| 426224-3001l| JNETm| JOYNERr| Ys| Yt| JNE3ETDu| 7/9/2025x| ETDz| JERESOURCE;

999 a| CLICK ON WEB ADDRESSw| ASISc| 1i| 426224-4001l| HSLELECm| HSLr| Ys| Yt| HEETDu| 7/9/2025x| ETDz| HERESOURCE;

A Homozygous deletion in the C-erbA-beta thyroid hormone receptor gene in a patient with generalized thyroid hormone resistance : isolation and characterization of the mutant receptor / by Jay B. Menke.

Author/creator	Menke, Jay B. author.
Other author	Usala, Stephen J., degree supervisor.
Other author	Allen, Wendall E., degree supervisor.
Other author	East Carolina University. Department of Biology.
Format	Theses and dissertations
Production	1992.
Description	iv, 49 leaves : illustrations ; 28 cm
Supplemental Content	Access via ScholarShip
Subjects	Thyrotropin. Thyroid hormones.

Summary	Different point mutations have been identified in the T3-binding domain of the C-erbA-beta thyroid hormone receptor gene that are associated with variant phenotypes of generalized resistance to thyroid hormone (GRTH). A novel genetic abnormality has been identified in the T3- binding domain of the beta-receptor in a Kindred S. One patient, S1, was homozygous for this defect. Heterozygotes from Kindred S harbored a CAC-deletion at nucleotides 1295-1297 in one allele which resulted in the deduced loss of threonine at codon 332. Patient S1 had two mutant alleles for the same deletion mutation. A fibroblast C-erbA-beta cDNA was cloned from patient SI and was used to create a full-length mutant cDNA. The Kindred S mutant receptor was synthesized in vitro and did not bind T3, but did bind to thyroid hormone response elements (Wondisford et al., 1990) . These properties can account for the dominant negative activity of the Kindred S receptor. This study demonstrates the crucial role of C-erbA-beta in mediating thyroid hormone action in man. Furthermore, The homozygous genotype demonstrates a role for C-erbA-alpha, another T3 hormone gene receptor, not linked to GRTH.
General note	Submitted to the faculty of the Department of Biology.
General note	Advisor: Stephen J. Usala
General note	Advisor: Wendall E. Allen
General note	Abstract title reads: A homogygous deletion in the C-erbA-beta thyroid hormone receptor gene in a patient with generalized resistance to thyroid hormone.
Dissertation note	M.S. East Carolina University 1992
Bibliography note	Includes bibliographical references (leaves 44-49).
Genre/form	dissertations.
Genre/form	Academic theses.
Genre/form	Academic theses.
Genre/form	Thèses et écrits académiques.

A Homozygous deletion in the C-erbA-beta thyroid hormone receptor gene in a patient with generalized thyroid hormone resistance : isolation and characterization of the mutant receptor / by Jay B. Menke.

Click here for more information about this title