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- W3133835188 endingPage "111227" @default.
- W3133835188 startingPage "111227" @default.
- W3133835188 abstract "Thyroglobulin (TG) plays a main role in the biosynthesis of thyroid hormones (TH), and, thus, it is involved in a wide range of vital functions throughout the life cycle of all vertebrates. Deficiency of TH production due to TG genetic variants causes congenital hypothyroidism (CH), with devastating consequences such as intellectual disability and impaired growth if untreated. To this day, 229 variations in the human TG gene have been identified while the 3D structure of TG has recently appeared. Although TG deficiency is thought to be of autosomal recessive inheritance, the introduction of massive sequencing platforms led to the identification of a variety of monoallelic TG variants (combined with mutations in other thyroid gene products) opening new questions regarding the possibility of oligogenic inheritance of the disease. In this review we discuss remarkable advances in the understanding of the TG architecture and the pathophysiology of CH associated with TG defects, providing new insights for the management of congenital disorders as well as counseling benefits for families with a history of TG abnormalities. Moreover, we summarize relevant aspects of TH synthesis within TG and offer an updated analysis of animal and cellular models of TG deficiency for pathophysiological studies of thyroid dyshormonogenesis while highlighting perspectives for new investigations. All in all, even though there has been sustained progress in understanding the role of TG in thyroid pathophysiology during the past 50 years, functional characterization of TG variants remains an important area of study for future advancement in the field." @default.
- W3133835188 created "2021-03-15" @default.
- W3133835188 creator A5020281241 @default.
- W3133835188 creator A5022215512 @default.
- W3133835188 creator A5082707995 @default.
- W3133835188 date "2021-05-01" @default.
- W3133835188 modified "2023-10-17" @default.
- W3133835188 title "Structure and genetic variants of thyroglobulin: Pathophysiological implications" @default.
- W3133835188 cites W1009820876 @default.
- W3133835188 cites W1496241100 @default.
- W3133835188 cites W1512161133 @default.
- W3133835188 cites W1524836399 @default.
- W3133835188 cites W1534588297 @default.
- W3133835188 cites W1537429361 @default.
- W3133835188 cites W1544219463 @default.
- W3133835188 cites W1549277555 @default.
- W3133835188 cites W1549363229 @default.
- W3133835188 cites W1551219357 @default.
- W3133835188 cites W1560129531 @default.
- W3133835188 cites W1579116665 @default.
- W3133835188 cites W1642252235 @default.
- W3133835188 cites W1950372159 @default.
- W3133835188 cites W1951523467 @default.
- W3133835188 cites W1964662783 @default.
- W3133835188 cites W1966824338 @default.
- W3133835188 cites W1967731479 @default.
- W3133835188 cites W1968853471 @default.
- W3133835188 cites W1969401498 @default.
- W3133835188 cites W1971661596 @default.
- W3133835188 cites W1972612844 @default.
- W3133835188 cites W1972718767 @default.
- W3133835188 cites W1975648725 @default.
- W3133835188 cites W1975764101 @default.
- W3133835188 cites W1976625952 @default.
- W3133835188 cites W1978408031 @default.
- W3133835188 cites W1979242901 @default.
- W3133835188 cites W1979287356 @default.
- W3133835188 cites W1980842944 @default.
- W3133835188 cites W1982818518 @default.
- W3133835188 cites W1986041786 @default.
- W3133835188 cites W1987970335 @default.
- W3133835188 cites W1988576322 @default.
- W3133835188 cites W1989631326 @default.
- W3133835188 cites W1990844377 @default.
- W3133835188 cites W1993761888 @default.
- W3133835188 cites W1994582012 @default.
- W3133835188 cites W1994931900 @default.
- W3133835188 cites W1997157007 @default.
- W3133835188 cites W1997507909 @default.
- W3133835188 cites W1997593368 @default.
- W3133835188 cites W1997920192 @default.
- W3133835188 cites W1998564815 @default.
- W3133835188 cites W1999771064 @default.
- W3133835188 cites W2000026908 @default.
- W3133835188 cites W2001134769 @default.
- W3133835188 cites W2001263747 @default.
- W3133835188 cites W2001282132 @default.
- W3133835188 cites W2002687817 @default.
- W3133835188 cites W2004151695 @default.
- W3133835188 cites W2006099720 @default.
- W3133835188 cites W2007037113 @default.
- W3133835188 cites W2008407135 @default.
- W3133835188 cites W2009078371 @default.
- W3133835188 cites W2010088857 @default.
- W3133835188 cites W2010783045 @default.
- W3133835188 cites W2011488509 @default.
- W3133835188 cites W2011707922 @default.
- W3133835188 cites W2012374999 @default.
- W3133835188 cites W2012813575 @default.
- W3133835188 cites W2014124696 @default.
- W3133835188 cites W2014193324 @default.
- W3133835188 cites W2015156954 @default.
- W3133835188 cites W2015202871 @default.
- W3133835188 cites W2016107315 @default.
- W3133835188 cites W2016190735 @default.
- W3133835188 cites W2018978665 @default.
- W3133835188 cites W2019696262 @default.
- W3133835188 cites W2021932599 @default.
- W3133835188 cites W2022017490 @default.
- W3133835188 cites W2022538534 @default.
- W3133835188 cites W2023982069 @default.
- W3133835188 cites W2025112777 @default.
- W3133835188 cites W2026734672 @default.
- W3133835188 cites W2027413303 @default.
- W3133835188 cites W2027435351 @default.
- W3133835188 cites W2028343348 @default.
- W3133835188 cites W2028506734 @default.
- W3133835188 cites W2028765085 @default.
- W3133835188 cites W2029451118 @default.
- W3133835188 cites W2031386339 @default.
- W3133835188 cites W2032339832 @default.
- W3133835188 cites W2033404929 @default.
- W3133835188 cites W2033777508 @default.
- W3133835188 cites W2034997627 @default.
- W3133835188 cites W2036131914 @default.
- W3133835188 cites W2036779328 @default.
- W3133835188 cites W2038223966 @default.
- W3133835188 cites W2038945682 @default.