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1 . Academic Journal
Thyroid hormone synthesis continues despite biallelic thyroglobulin mutation with cell death
저자
by
Xiaohan Zhang
;
Aaron P. Kellogg
;
Cintia E. Citterio
;
Hao Zhang
;
Dennis Larkin
, et al.
소스
JCI Insight, Vol 6, Iss 11 (2021)
Open Access (DOAJ)
Web of Science
Scopus
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7 .
The p.Pro2232Leu variant in the ChEL domain of thyroglobulin gene causes intracellular transport disorder and congenital hypothyroidism
저자
by
Sofia Siffo
;
Mauricio Gomes Pio
;
Elena Bueno Martínez
;
Katherine Lachlan
;
Joanna Walker
, et al.
소스
Open Access (OpenAIRE)
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7 .
The p.Cys1281Tyr variant in the hinge module/flap region of thyroglobulin causes intracellular transport disorder and congenital hypothyroidism
저자
by
Mauricio Gomes Pio
;
Ezequiela Adrover
;
Mirta B. Miras
;
Gabriela Sobrero
;
Maricel F. Molina
, et al.
소스
Molecular and Cellular Endocrinology
. 572:111948
Web of Science
Scopus
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7 .
Genetic bases and modifiers of β-thalassemia in Argentina
저자
by
Karen G. Scheps
;
Juan Pablo Salim
;
Viviana Varela
;
Nora Basack
;
Eliana García
, et al.
소스
Human Gene
. 33:201071
Web of Science
Scopus
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7 .
Thyroid hormone synthesis continues despite biallelic thyroglobulin mutation with cell death
저자
by
Aaron P. Kellogg
;
Peter Arvan
;
Xiaohan Zhang
;
Cintia Eliana Citterio
;
Yoshiaki Morishita
, et al.
소스
JCI Insight
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
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Scopus
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7 .
The role of thyroglobulin in thyroid hormonogenesis
저자
by
Cintia E. Citterio
;
Peter Arvan
;
Héctor M. Targovnik
.
소스
Nature Reviews Endocrinology
. 15:323-338
Web of Science
Scopus
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5 .
Curating the gnomAD database: Report of novel variants in the thyrogobulin gene using in silico bioinformatics algorithms
저자
by
Maricel F. Molina
;
Sofia Siffo
;
Ezequiela Adrover
;
Héctor M. Targovnik
;
Miguel Martin Abelleyro
, et al.
소스
Molecular and cellular endocrinology
. 534
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7 .
A novel mutation in intron 11 donor splice site, responsible of a rare genotype in thyroglobulin gene by altering the pre-mRNA splincing process: Cell expression and bioinformatic analysis
저자
by
Maricel F. Molina
;
Mauricio Gomes Pio
;
Carina M. Rivolta
;
Ana Chiesa
;
Sofia Siffo
, et al.
소스
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
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7 .
Structure and genetic variants of thyroglobulin: Pathophysiological implications
저자
by
Carina M. Rivolta
;
Héctor M. Targovnik
;
Cintia E. Citterio
.
소스
Molecular and cellular endocrinology
. 528
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5 .
Defects in protein folding in congenital hypothyroidism
저자
by
Héctor M. Targovnik
;
Karen G. Scheps
;
Carina M. Rivolta
.
소스
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