[Advances in the diagnosis and treatment of Alagille syndrome].
Guangzhou, China. In Zhongguo Dang Dai Er Ke Za Zhi, 2014
In this disease, the Notch signalling pathway is impaired due to mutation in JAG1 (ALGS type 1) or NOTCH2 (ALGS type 2) gene, affecting multiple organs or systems such as liver, heart, eyes, vertebrate and face.
Hajdu-Cheney syndrome: a case report with review of literature.
Marmagao, India. In J Radiol Case Rep, 2014
Recent research suggests that it is caused by heterozygous mutation of terminal exon of NOTCH 2. Most characteristic findings include transverse band of acro-osteolysis involving the phalanges of both hands and feet and osteoporosis and deformities involving skull, mandible, spine and other bones.
Hajdu-Cheney syndrome: a review.
Farmington, United States. In Orphanet J Rare Dis, 2013
HCS is associated with mutations in exon 34 of NOTCH2 upstream the PEST domain that lead to the creation of a truncated and stable NOTCH2 protein with enhanced NOTCH2 signaling activity.
Clinical risk factors, DNA variants, and the development of type 2 diabetes.
Malmö, Sweden. In N Engl J Med, 2008
Variants in 11 genes (TCF7L2, PPARG, FTO, KCNJ11, NOTCH2, WFS1, CDKAL1, IGF2BP2, SLC30A8, JAZF1, and HHEX) were significantly associated with the risk of type 2 diabetes independently of clinical risk factors; variants in 8 of these genes were associated with impaired beta-cell function.