𝔖 Bobbio Scriptorium
✦   LIBER   ✦

APECED-causing mutations in AIRE reveal the functional domains of the protein

✍ Scribed by Maria Halonen; Hannele Kangas; Taina Rüppell; Tanja Ilmarinen; Juha Ollila; Meelis Kolmer; Mauno Vihinen; Jorma Palvimo; Jani Saarela; Ismo Ulmanen; Petra Eskelin


Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
603 KB
Volume
23
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

✦ Synopsis


Communicated by


📜 SIMILAR VOLUMES


Functional analysis of SAND mutations in
✍ Tanja Ilmarinen; Petra Eskelin; Maria Halonen; Taina Rüppell; Riika Kilpikari; G 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 413 KB

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a rare disorder caused by mutations in the autoimmune regulator gene (AIRE) and characterized by a variable combination of organ-specific autoimmune diseases. Studies on AIRE-deficient mice suggest that AIRE is an important f

Identification of a novel mutation causi
✍ Annukka Isoniemi; Marja Hietala; Pertti Aula; Anu Jalanko; Leena Peltonen 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 921 KB

Aspartylglucosaminuria (AGU) is a recessively inherited metabolic disorder caused by the deficiency of a lysosomal enzyme, aspartylglucosaminidase. The worldwide most common mutation causing the disease is the AGU,,,, enriched in Finland; all the other known AGU mutations are family-specific. We dev

Inferring the functional effects of muta
✍ Peng Yue; William F. Forrest; Joshua S. Kaminker; Scott Lohr; Zemin Zhang; Guy C 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 328 KB

Inferring functional consequences is a bottleneck in high-throughput cancer mutation discovery and genetic association studies. Most polymorphisms and germline mutations are unlikely to have functionally significant consequences. Most cancer somatic mutations do not contribute to tumorigenesis and a

Splicing mutations in the COL3 domain of
✍ Lohiniva, Jaana; Paassilta, Petteri; Sepp�nen, Ulpu; Vierimaa, Outi; Kivirikko, 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 35 KB 👁 2 views

We report on a three-generation family with multiple epiphyseal dysplasia (MED). The propositus had typical MED findings of knees, ankles, elbows, and hands in childhood. The 2 other affected relatives were adults. The main clinical findings consisted of osteochondritis dissecans and osteoarthritis

Missense mutation in the paired domain o
✍ James H. Asher Jr.; Annemarie Sommer; Robert Morell; Thomas B. Friedman 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 601 KB

## Semmzu Craniofacial-deafnesshand syndrome (MIM 122880) is inherited as an autosomal dominant mutation characterized by the absence or hypoplasia of the nasal bones, profound sensorineural deafness, a small and short nose with slitlike nares, hypertelorism, short palpebral fissures, and limited