𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Spectrum ofJAG1gene mutations in Polish patients with Alagille syndrome

✍ Scribed by Jurkiewicz, Dorota; Gliwicz, Dorota; Ciara, Elżbieta; Gerfen, Jennifer; Pelc, Magdalena; Piekutowska-Abramczuk, Dorota; Kugaudo, Monika; Chrzanowska, Krystyna; Spinner, Nancy B.; Krajewska-Walasek, Małgorzata

Book ID
125384752
Publisher
Springer-Verlag
Year
2014
Tongue
English
Weight
315 KB
Volume
55
Category
Article
ISSN
1234-1983

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

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.

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

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