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Pseudohypoparathyroidism, Type Ia

Known as: PHP IA, PHP1A, Pseudohypoparathyroidisms, Type Ia 
A rare, autosomal dominant syndrome caused by mutations in the GNAS gene. It is characterized by the presence of short stature, obesity, round face… Expand
National Institutes of Health

Papers overview

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2015
2015
Maternally inherited inactivating GNAS mutations are the most common cause of parathyroid hormone (PTH) resistance and Albright… Expand
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2013
2013
CONTEXT Disruption of the Gsα maternal allele leads to severe obesity and insulin resistance in mice and early-onset obesity in… Expand
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Highly Cited
2012
Highly Cited
2012
Abstract This study presents a novel pulsating heat pipe (PHP) concept that is functional even when PHP is with fewer turns and… Expand
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Review
2010
Review
2010
  • G. Kelsey
  • American journal of medical genetics. Part C…
  • 2010
  • Corpus ID: 9083923
The GNAS locus on chromosome 20q13.11 is the archetypal complex imprinted locus. It comprises a bewildering array of alternative… Expand
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2004
2004
Pseudohypoparathyroidism type Ia (PHP-Ia) is a hereditary disease characterized by resistance to PTH and other hormones that act… Expand
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2004
2004
Progressive osseous heteroplasia (OMIM 166350) is a rare autosomal dominant condition that presents in childhood as dermal… Expand
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Highly Cited
2003
Highly Cited
2003
Heterozygous inactivating mutations in the Gs alpha gene cause Albright's hereditary osteodystrophy. Consistent with the… Expand
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Highly Cited
2003
Highly Cited
2003
The stimulatory G protein alpha-subunit G(s)alpha couples receptors to adenylyl cyclase and is required for hormone-stimulated… Expand
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2000
2000
Introducing 3-methoxy or 3,5-dimethoxy substituents on the 4-hydroxyphenacyl (pHP) photoremovable protecting group has been… Expand
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Highly Cited
1994
Highly Cited
1994
LUTEINIZING hormone stimulates testicular Leydig cells to produce testosterone by binding to a receptor that activates the G… Expand
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