[HTML][HTML] Gigantism and Acromegaly Due to Xq26 Microduplications and GPR101 Mutation
Background Increased secretion of growth hormone leads to gigantism in children and
acromegaly in adults; the genetic causes of gigantism and acromegaly are poorly …
acromegaly in adults; the genetic causes of gigantism and acromegaly are poorly …
[HTML][HTML] Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study
D Iacovazzo, R Caswell, B Bunce, S Jose… - Acta neuropathologica …, 2016 - Springer
Non-syndromic pituitary gigantism can result from AIP mutations or the recently identified
Xq26. 3 microduplication causing X-linked acrogigantism (XLAG). Within Xq26. 3, GPR101 …
Xq26. 3 microduplication causing X-linked acrogigantism (XLAG). Within Xq26. 3, GPR101 …
[HTML][HTML] X-linked acrogigantism syndrome: clinical profile and therapeutic responses
A Beckers, MB Lodish, G Trivellin… - Endocrine-related …, 2015 - erc.bioscientifica.com
X-linked acrogigantism (X-LAG) is a new syndrome of pituitary gigantism, caused by
microduplications on chromosome Xq26. 3, encompassing the gene GPR101, which is …
microduplications on chromosome Xq26. 3, encompassing the gene GPR101, which is …
[HTML][HTML] Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects
Somatic mosaicism has been implicated as a causative mechanism in a number of genetic
and genomic disorders. X-linked acrogigantism (XLAG) syndrome is a recently …
and genomic disorders. X-linked acrogigantism (XLAG) syndrome is a recently …
[HTML][HTML] Genetics of acromegaly and gigantism
A Bogusławska, M Korbonits - Journal of Clinical Medicine, 2021 - mdpi.com
Growth hormone (GH)-secreting pituitary tumours represent the most genetically determined
pituitary tumour type. This is true both for germline and somatic mutations. Germline …
pituitary tumour type. This is true both for germline and somatic mutations. Germline …
[HTML][HTML] GPR101 drives growth hormone hypersecretion and gigantism in mice via constitutive activation of Gs and Gq/11
Growth hormone (GH) is a key modulator of growth and GH over-secretion can lead to
gigantism. One form is X-linked acrogigantism (X-LAG), in which infants develop GH …
gigantism. One form is X-linked acrogigantism (X-LAG), in which infants develop GH …
The causes and consequences of pituitary gigantism
In the general population, height is determined by a complex interplay between genetic and
environmental factors. Pituitary gigantism is a rare but very important subgroup of patients …
environmental factors. Pituitary gigantism is a rare but very important subgroup of patients …
[HTML][HTML] Acromegaly
P Chanson, S Salenave - Orphanet journal of rare diseases, 2008 - Springer
Acromegaly is an acquired disorder related to excessive production of growth hormone (GH)
and characterized by progressive somatic disfigurement (mainly involving the face and …
and characterized by progressive somatic disfigurement (mainly involving the face and …
Loss of heterozygosity on chromosome 11q13 in two families with acromegaly/gigantism is independent of mutations of the multiple endocrine neoplasia type I gene
MR Gadelha, TR Prezant, KN Une… - The Journal of …, 1999 - academic.oup.com
Familial acromegaly/gigantism occurring in the absence of multiple endocrine neoplasia
type I (MEN-1) or the Carney complex has been reported in 18 families since the …
type I (MEN-1) or the Carney complex has been reported in 18 families since the …