✦ LIBER ✦

Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population

✍ Scribed by Mandy L. Heritage; John C. MacMillan; Raymond P. Colliton; Anna Genin; Nancy B. Spinner; Gregory J. Anderson

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 306 KB
Volume: 16
Category: Article
ISSN: 1059-7794
DOI: 10.1002/1098-1004(200011)16:5<408::aid-humu5>3.0.co;2-9

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Jagged1 mutations in Alagille syndrome

✍ Nancy B. Spinner; Raymond P. Colliton; Cécile Crosnier; Ian D. Krantz; Michelle 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 355 KB

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

Jagged-1 mutation analysis in Italian Al

Jagged-1 mutation analysis in Italian Alagille syndrome patients

✍ Giuseppe Pilia; Manuela Uda; Dolores Macis; Fulvia Frau; Laura Crisponi; Fiorell 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 389 KB 👁 2 views

## Communicated by Riccardo Fodde Alagille syndrome (AGS) is an autosomal dominant disorder with developmental abnormalities affecting the liver, heart, eyes, vertebrae, and craniofacial region. The Jagged-1 (JAG1) gene, which encodes a ligand of Notch, has recently been found mutated in AGS. In th

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.

Jagged1 gene mutation for abdominal coar

Jagged1 gene mutation for abdominal coarctation of the aorta in Alagille syndrome

✍ Raas-Rothschild, Annick ;Shteyer, Eyal ;Lerer, Israela ;Nir, Amiram ;Granot, Est 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 140 KB 👁 2 views

## Abstract Congenital cardiac defects such as peripheral pulmonary stenosis are well described in Alagille syndrome (AGS), which is transmitted in an autosomal dominant inheritance. Haploinsufficiency of the Jagged1 (__JAG1__) gene has been shown to cause AGS. Abdominal coarctation is an uncommon

Absence of NOTCH2 and Hey2 mutations in

Absence of NOTCH2 and Hey2 mutations in a familial Alagille syndrome case with a novel frameshift mutation in JAG1

✍ Inaam El-Rassy; Jad Bou-Abdallah; Sara Al-Ghadban; Fadi Bitar; Georges Nemer 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 131 KB 👁 2 views