Functional characterization of four novel PAX8 mutations causing congenital hypothyroidism: new evidence for haploinsufficiency as a disease mechanism

scientific article published on 16 August 2012

Functional characterization of four novel PAX8 mutations causing congenital hypothyroidism: new evidence for haploinsufficiency as a disease mechanism is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1530/EJE-12-0410
P698PubMed publication ID22898500

P50authorMasanori AdachiQ38322622
Koji MuroyaQ38322643
P2093author name stringTomonobu Hasegawa
Satoshi Narumi
Yukiyo Yamamoto
Shunsuke Araki
Naoaki Hori
Yumi Asakura
P433issue5
P921main subjectcongenital hypothyroidismQ531012
haploinsufficiencyQ852654
P304page(s)625-632
P577publication date2012-08-16
P1433published inEuropean Journal of EndocrinologyQ3060778
P1476titleFunctional characterization of four novel PAX8 mutations causing congenital hypothyroidism: new evidence for haploinsufficiency as a disease mechanism
P478volume167

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cites work (P2860)
Q37334698A Novel Mutation (S54C) of the PAX8 Gene in a Family with Congenital Hypothyroidism and a High Proportion of Affected Individuals
Q36465452DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population
Q37702784Identification and characterization of novel PAX8 mutations in Congenital Hypothyroidism(CH) in a Chinese population
Q28973622In vitro generation of human pluripotent stem cell derived lung organoids
Q37710411Molecular cloning and functional characterization of two forms of Pax8 in the rainbow trout, Oncorhynchus mykiss
Q39397157Resistance to thyrotropin
Q28250485Thyroid transcription factors in development, differentiation and disease
Q90148627Unraveling molecular targets of bisphenol A and S in the thyroid gland

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