✦ LIBER ✦

Mutations in the human Jagged1 gene are responsible for Alagille syndrome

✍ Scribed by Spinner, Nancy B.; Collins, Francis S.; Oda, Takaya; Elkahloun, Abdel G.; Pike, Brian L.; Okajima, Kazuki; Krantz, Ian D.; Genin, Anna; Piccoli, David A.; Meltzer, Paul S.

Book ID: 109916521
Publisher: Nature Publishing Group
Year: 1997
Tongue: English
Weight: 941 KB
Volume: 16
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng0797-235

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutations in JAGGED1 gene are predominan

Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome

✍ Cécile Crosnier*; Catherine Driancourt*; Nicole Raynaud*; Sophie Dhorne–Pollet*; 📂 Article 📅 1999 🏛 Elsevier Science 🌐 English ⚖ 210 KB

Jagged1 (JAG1) mutations in Alagille syn

Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate

✍ DM Warthen; EC Moore; BM Kamath; JJD Morrissette; P Sanchez; DA Piccoli; ID Kran 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 297 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

Jagged1 ( JAG1 ) Mutations in Alagille S

Jagged1 ( JAG1 ) Mutations in Alagille Syndrome: Increasing the Mutation Detection Rate

✍ Warthen, D. M.; Moore, E. C.; Kamath, B. M.; Morrissette, J. J. D.; Sanchez-Lara 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 73 KB

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

Twelve novel JAG1 gene mutations in poli

Twelve novel JAG1 gene mutations in polish Alagille syndrome patients

✍ Dorota Jurkiewicz; Ewa Popowska; Christiane Gläser; Ingo Hansmann; Małgorzata Kr 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 119 KB 👁 1 views

Communicated by Mark H. Paalman Alagille syndrome (AGS) is an autosomal dominant disorder with developmental abnormalities of the liver, heart, eyes, vertebrae, and face. Mutations in the JAG1 (Jagged 1) gene, coding a ligand in the evolutionarily conserved Notch signaling pathway, are responsible f

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.