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Zentaro Kiuchi
Zentaro Kiuchi
Harvard University
Pseudohypoparathyroidism
STX16
Biology
GNAS complex locus
Genetics
4
Papers
2
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0
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Lack of GNAS re-methylation during oogenesis may be a cause of sporadic pseudohypoparathyroidism type Ib (PHP1B).
2021
The Journal of Clinical Endocrinology and Metabolism
Angelo Milioto
Monica Reyes
Patrick Hanna
Zentaro Kiuchi
Serap Turan
Daniel Zeve
Chhavi Agarwal
Giedre Grigelioniene
Any Chen
Verónica Mericq
Myrto Frangos
Svetlana Ten
Giovanna Mantovani
Isidro B. Salusky
Peter J. Tebben
Harald Jüppner
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Progression of PTH-resistance in autosomal dominant pseudohypoparathyroidism type Ib due to maternal STX16 deletions.
2021
The Journal of Clinical Endocrinology and Metabolism
Zentaro Kiuchi
Monica Reyes
Patrick Hanna
Anu Sharma
Terry DeClue
Robert C. Olney
Peter J. Tebben
Harald Jüppner
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A distinct variant of pseudohypoparathyroidism ( PHP ) first characterized some 41 years ago is caused by the 3‐kb STX16 deletion
2021
Zentaro Kiuchi
Monica Reyes
Arnold S. Brickman
Harald Jüppner
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Preferential maternal transmission of STX16-GNAS mutations responsible for autosomal dominant pseudohypoparathyroidism type Ib (PHP1B): another example of Transmission Ratio Distortion.
2020
Journal of Bone and Mineral Research
Zentaro Kiuchi
Monica Reyes
Harald Jüppner
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