✦ LIBER ✦

Jagged1 (JAG1) mutations in patients with tetralogy of fallot or pulmonic stenosis

✍ Scribed by Robert C. Bauer; Ayanna O. Laney; Rosemarie Smith; Jennifer Gerfen; Jennifer J.D. Morrissette; Stacy Woyciechowski; Jennifer Garbarini; Kathleen M. Loomes; Ian D. Krantz; Zsolt Urban; Bruce D. Gelb; Elizabeth Goldmuntz; Nancy B. Spinner

Publisher: John Wiley and Sons
Year: 2010
Tongue: English
Weight: 276 KB
Volume: 31
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.21231

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutation analysis of Jagged1 (JAG1) in A

Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients

✍ Raymond P. Colliton; Lynn Bason; Feng-Min Lu; David A. Piccoli; Ian D. Krantz; N 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 21 KB 👁 2 views

Alagille syndrome (AGS) is an autosomal dominant disorder caused by mutations in Jagged1 (JAG1), a ligand in the evolutionarily conserved Notch signaling pathway. Previous studies have demonstrated that a wide spectrum of JAG1 mutations result in AGS. These include total gene deletions, protein trun

Identification of 36 novel Jagged1 (JAG1

Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome

✍ Albrecht Röpke; Annegret Kujat; Mechthild Gräber; Joannis Giannakudis; Ingo Hans 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 37 KB 👁 1 views

Alagille syndrome (AGS) is an autosomal dominant disorder characterized by five major symptoms: cholestasis, vertebral deformity, heart malformations, ocular defects and peculiar facial appearance. The previously described Jagged1 (JAG1) gene on chromosome 20p12 has been identified as being responsi

DHPLC mutation analysis of Jagged1 (JAG1

DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients

✍ Mandy L. Heritage; John C. MacMillan; Gregory J. Anderson 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 89 KB 👁 1 views

Alagille syndrome (AGS) is an autosomal dominant disorder characterized by abnormal development of the liver, heart, skeleton, eye, and face. Mutations in the Jagged1 gene have been found to result in the AGS phenotype. Using denaturing high performance liquid chromatography (DHPLC) mutation analysi

Jagged1 mutations in patients ascertaine

Jagged1 mutations in patients ascertained with isolated congenital heart defects

✍ Krantz, Ian D.; Smith, Rosemarie; Colliton, Ray P.; Tinkel, Hilary; Zackai, Elai 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 30 KB 👁 2 views

Mutations in Jagged1 cause Alagille syndrome (AGS), a pleiotropic disorder with involvement of the liver, heart, skeleton, eyes, and facial structures. Cardiac defects are seen in more than 95% of AGS patients. Most commonly these are right-sided defects ranging from mild peripheral pulmonic stenosi

Increasing the mutation rate for jagged1

Increasing the mutation rate for jagged1 mutations in patients with Alagille syndrome

✍ David L. Suskind; Karen F. Murray 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 128 KB 👁 1 views

Alagille syndrome (AGS) is caused by heterozygous mutations in JAG1, and mutations have been previously reported in about 70% of patients who meet clinical diagnostic criteria. We studied a cohort of 247 clinically well-defined patients, and using an aggressive and sequential screening approach we i

Fifteen novel mutations in the JAGGED1 g

Fifteen novel mutations in the JAGGED1 gene of patients with Alagille syndrome

✍ Cécile Crosnier; Catherine Driancourt; Nicole Raynaud; Michelle Hadchouel; Michè 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 23 KB 👁 2 views

Mutations in the human JAGGED1 gene cause Alagille syndrome, an autosomal dominant developmental disorder. The gene encodes a transmembrane protein which is a ligand of Notch receptors. We report 23 mutations in previously undescribed probands, including 15 novel mutations and 8 recurrent mutations.