✦ LIBER ✦

Point mutations of 3BP2 identified in human-inherited disease cherubism result in the loss of function

✍ Scribed by S. M. Shahjahan Miah; Tomoko Hatani; Xiujuan Qu; Hirohei Yamamura; Kiyonao Sada

Book ID: 108731706
Publisher: John Wiley and Sons
Year: 2004
Tongue: English
Weight: 383 KB
Volume: 9
Category: Article
ISSN: 1356-9597
DOI: 10.1111/j.1365-2443.2004.00784.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Enhancement of B-cell receptor signaling

Enhancement of B-cell receptor signaling by a point mutation of adaptor protein 3BP2 identified in human inherited disease cherubism

✍ Kazuhiro Ogi; Kenji Nakashima; Kazuyasu Chihara; Kenji Takeuchi; Tomoko Horiguch 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 1013 KB

Loss-of-function presenilin mutations in

Loss-of-function presenilin mutations in Alzheimer disease. Talking Point on the role of presenilin mutations in Alzheimer disease

✍ De Strooper, Bart 📂 Article 📅 2007 🏛 Nature Publishing Group 🌐 English ⚖ 240 KB

Loss-of-function mutations in the cathep

Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

✍ Thakker, Nalin S.; Toomes, Carmel; James, Jacqueline; Wood, A. Joseph; Wu, Chu L 📂 Article 📅 1999 🏛 Nature Publishing Group 🌐 English ⚖ 474 KB

Presenilin 2 familial Alzheimer's diseas

Presenilin 2 familial Alzheimer's disease mutations result in partial loss of function and dramatic changes in Aβ 42/40 ratios

✍ Emily S. Walker; Maribel Martinez; Anne L. Brunkan; Alison Goate 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 413 KB

Functional implications of mutations in

Functional implications of mutations in the human renal outer medullary potassium channel (ROMK2) identified in Bartter syndrome

✍ Patrick G. Starremans; Annemiete W. van der Kemp; Nine V. Knoers; Lambertus P. v 📂 Article 📅 2002 🏛 Springer 🌐 English ⚖ 226 KB

The full spectrum of holoprosencephaly-a

The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism

✍ Erich Roessler; Felicitas Lacbawan; Christèle Dubourg; Aimee Paulussen; Jos Herb 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 254 KB

Mutations of the ZIC2 transcription factor gene are among the most common heterozygous variations detected in holoprosencephaly (HPE) patients, a patient group who lack critical midline forebrain specification due to defective embryonic signaling during development. Recent studies indicate that com