The Gene Responsible for Pseudohypoparathyroidism Type Ib Is Paternally Imprinted and Maps in Four Unrelated Kindreds to Chromosome 20q13.3

Autor: Jüppner, H., Schipani, E., Bastepe, M., Cole, D. E. C., Lawson, M. L., Mannstadt, M., Hendy, G. N., Plotkin, H., Koshiyama, H., Koh, T., Crawford, J. D., Olsen, B. R., Vikkula, M.

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America, 1998 Sep . 95(20), 11798-11803.

Externí odkaz: https://www.jstor.org/stable/49267

Cellular senescence by loss of Men1 in osteoblasts is critical for age‐related osteoporosis.

Autor: Ukon, Yuichiro¹ (AUTHOR), Kaito, Takashi¹ (AUTHOR) takashikaito@ort.med.osaka‐u.ac.jp, Hirai, Hiromasa¹ (AUTHOR), Kitahara, Takayuki¹ (AUTHOR), Bun, Masayuki¹ (AUTHOR), Kodama, Joe² (AUTHOR), Tateiwa, Daisuke³ (AUTHOR), Nakagawa, Shinichi¹ (AUTHOR), Ikuta, Masato¹ (AUTHOR), Furuichi, Takuya¹ (AUTHOR), Kanie, Yuya¹ (AUTHOR), Fujimori, Takahito¹ (AUTHOR), Takenaka, Shota¹ (AUTHOR), Yamamuro, Tadashi⁴ (AUTHOR), Otsuru, Satoru² (AUTHOR), Okada, Seiji¹ (AUTHOR), Yamashita, Masakatsu⁵ (AUTHOR), Imamura, Takeshi⁶ (AUTHOR)

Publikováno v: Aging Cell. Oct2024, Vol. 23 Issue 10, p1-17. 17p.

Primary hyperparathyroidism and the presence of kidney stones are associate with different haplotypes of the calcium sensing receptor

Autor: Scillitani, A., Guarnieri, V., Battista, C., De Geronimo, S., Muscarella, L. A., Chiodini, I., Cignarelli, M., Minisola, S., Bertoldo, Francesco, Francucci, C. M., Malavolta, N., Piovesan, A., Mascia, M. L., Muscarella, S., Hendy, G. N., Cole, D. E.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1943::16e01fbf8c59a5b77042d5bba01dadda
http://hdl.handle.net/11562/313559

Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS

Autor: Bastepe, M., Frohlich, L. F., Hendy, G. N., Indridason, O. S., Josse, R. G., Koshiyama, H., Korkko, J., Nakamoto, J. M., Rosenbloom, A. L., Slyper, A. H., Sugimoto, T., Tsatsoulis, A., Crawford, J. D., Juppner, H.

Patients with pseudohypoparathyroidism type Ib (PHP-Ib) have hypocalcemia and hyperphosphatemia due to renal parathyroid hormone (PTH) resistance, but lack physical features of Albright hereditary osteodystrophy. PHP-Ib is thus distinct from PHP-Ia,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_____10561::c4ea30a014ebf9ebde934616cb0d39a8
http://olympias.lib.uoi.gr/jspui/handle/123456789/23570

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