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• W3126522464 endingPage "1552" @default.
• W3126522464 startingPage "1541" @default.
• W3126522464 abstract "Abstract Pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP) are caused by mutations and/or epigenetic changes at the complex GNAS locus on chromosome 20q13.3 that undergoes parent-specific methylation changes at several differentially methylated regions (DMRs). GNAS encodes the alpha-subunit of the stimulatory G protein (Gsα) and several splice variants thereof. PHP type Ia (PHP1A) is caused by heterozygous inactivating mutations involving the maternal exons 1-13. Heterozygosity of these maternal GNAS mutations cause PTH-resistant hypocalcemia and hyperphosphatemia because paternal Gsα expression is suppressed in certain organs thus leading to little or no Gsα protein in the proximal renal tubules and other tissues. Besides biochemical abnormalities, PHP1A patients show developmental abnormalities, referred to as Albright’s hereditary osteodystrophy (AHO). Some, but not all of these AHO features are encountered also in patients affected by PPHP, who carry paternal Gsα-specific mutations and typically show no laboratory abnormalities. Autosomal dominant PHP type Ib (AD-PHP1B) is caused by heterozygous maternal deletions within GNAS or STX16, which are associated with loss of methylation at the A/B DMR alone or at all maternally methylated GNAS exons. Loss of methylation of exon A/B and the resulting biallelic expression of A/B transcript reduces Gsα expression thus leading to hormonal resistance. Epigenetic changes at all differentially methylated GNAS regions are also observed in sporadic PHP1B, which is the most frequent PHP1B variant. However, this disease variant remains unresolved at the molecular level, except for rare cases with paternal uniparental isodisomy or heterodisomy of chromosome 20q (patUPD20q)." @default.
• W3126522464 created "2021-02-15" @default.
• W3126522464 creator A5061211092 @default.
• W3126522464 date "2021-02-02" @default.
• W3126522464 modified "2023-10-10" @default.
• W3126522464 title "Molecular Definition of Pseudohypoparathyroidism Variants" @default.
• W3126522464 cites W1515800074 @default.
• W3126522464 cites W1537435549 @default.
• W3126522464 cites W1581434205 @default.
• W3126522464 cites W1602784471 @default.
• W3126522464 cites W181881391 @default.
• W3126522464 cites W1891299758 @default.
• W3126522464 cites W1965492882 @default.
• W3126522464 cites W1965669105 @default.
• W3126522464 cites W1968714547 @default.
• W3126522464 cites W1971713937 @default.
• W3126522464 cites W1975168528 @default.
• W3126522464 cites W1976260946 @default.
• W3126522464 cites W1977632460 @default.
• W3126522464 cites W1980492262 @default.
• W3126522464 cites W1981145285 @default.
• W3126522464 cites W1981509506 @default.
• W3126522464 cites W1984433049 @default.
• W3126522464 cites W1989854187 @default.
• W3126522464 cites W1994150996 @default.
• W3126522464 cites W1995549094 @default.
• W3126522464 cites W1995625980 @default.
• W3126522464 cites W1998510147 @default.
• W3126522464 cites W2001673374 @default.
• W3126522464 cites W2003074882 @default.
• W3126522464 cites W2009153723 @default.
• W3126522464 cites W2010075485 @default.
• W3126522464 cites W2012715515 @default.
• W3126522464 cites W2012832176 @default.
• W3126522464 cites W2015600409 @default.
• W3126522464 cites W2016686236 @default.
• W3126522464 cites W2022051629 @default.
• W3126522464 cites W2026437164 @default.
• W3126522464 cites W2033134304 @default.
• W3126522464 cites W2034686025 @default.
• W3126522464 cites W2037831169 @default.
• W3126522464 cites W2040690889 @default.
• W3126522464 cites W2046302309 @default.
• W3126522464 cites W2051145385 @default.
• W3126522464 cites W2051349203 @default.
• W3126522464 cites W2053003494 @default.
• W3126522464 cites W2053620813 @default.
• W3126522464 cites W2055383210 @default.
• W3126522464 cites W2057829065 @default.
• W3126522464 cites W2060233342 @default.
• W3126522464 cites W2061453387 @default.
• W3126522464 cites W2066808480 @default.
• W3126522464 cites W2073480698 @default.
• W3126522464 cites W2074169344 @default.
• W3126522464 cites W2074923758 @default.
• W3126522464 cites W2077355085 @default.
• W3126522464 cites W2080548729 @default.
• W3126522464 cites W2081934037 @default.
• W3126522464 cites W2083300182 @default.
• W3126522464 cites W2083526856 @default.
• W3126522464 cites W2084283037 @default.
• W3126522464 cites W2084590385 @default.
• W3126522464 cites W2084816201 @default.
• W3126522464 cites W2088207236 @default.
• W3126522464 cites W2088590824 @default.
• W3126522464 cites W2089513225 @default.
• W3126522464 cites W2090114948 @default.
• W3126522464 cites W2093339494 @default.
• W3126522464 cites W2093617545 @default.
• W3126522464 cites W2094214468 @default.
• W3126522464 cites W2095834589 @default.
• W3126522464 cites W2098195823 @default.
• W3126522464 cites W2098500609 @default.
• W3126522464 cites W2102633546 @default.
• W3126522464 cites W2104924678 @default.
• W3126522464 cites W2106106976 @default.
• W3126522464 cites W2122096636 @default.
• W3126522464 cites W2125491195 @default.
• W3126522464 cites W2125826558 @default.
• W3126522464 cites W2129375655 @default.
• W3126522464 cites W2130464002 @default.
• W3126522464 cites W2133931922 @default.
• W3126522464 cites W2135533495 @default.
• W3126522464 cites W2138468802 @default.
• W3126522464 cites W2140217893 @default.
• W3126522464 cites W2149830483 @default.
• W3126522464 cites W2151585204 @default.
• W3126522464 cites W2151588869 @default.
• W3126522464 cites W2157983772 @default.
• W3126522464 cites W2264601402 @default.
• W3126522464 cites W2318625148 @default.
• W3126522464 cites W2329083828 @default.
• W3126522464 cites W2341151369 @default.
• W3126522464 cites W2341814959 @default.
• W3126522464 cites W2394806265 @default.
• W3126522464 cites W2410813846 @default.
• W3126522464 cites W2420927372 @default.
• W3126522464 cites W2471206328 @default.

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