𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Missense mutations of human homeoboxes: A review

✍ Scribed by Angela V. D’Elia; Gianluca Tell; Igor Paron; Lucia Pellizzari; Renata Lonigro; Giuseppe Damante

Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
121 KB
Volume
19
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

✦ Synopsis

Inconsistencies among published and databank sequences of the homeodomains listed in Figure have been found. We have decided to correct these inconsistencies showing homeodomain sequences of the Swiss-Prot database. Therefore, Figure of the paper has been changed accordingly.

📜 SIMILAR VOLUMES

Missense mutations of human homeoboxes:
Missense mutations of human homeoboxes: A review
✍ Angela V. D’Elia; Gianluca Tell; Igor Paron; Lucia Pellizzari; Renata Lonigro; G 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 550 KB

## Communicated by Michel Goossens The homeodomain (encoded by the homeobox) is the DNA-binding domain of a large variety of transcriptional regulators involved in controlling cell fate decisions and development. Mutations of homeobox-containing genes cause several diseases in humans. A variety of

Pseudodominant inheritance of Langer mes
Pseudodominant inheritance of Langer mesomelic dysplasia caused by aSHOX homeobox missense mutation
✍ Shears, Deborah J. ;Guillen-Navarro, Encarna ;Sempere-Miralles, Manuel ;Domingo- 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 188 KB

## Abstract We report the clinical and molecular analysis in a consanguineous family in which the skeletal dysplasias Léri‐Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD) both segregate. A newborn male and his mother, both with Langer mesomelic dysplasia, are described. A homozyg

A HOXA13 allele with a missense mutation
A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome
✍ Jeffrey W. Innis; Frances R. Goodman; Chiara Bacchelli; Thomas M. Williams; Doug 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 166 KB

## Communicated by Gregg Semenza Guttmacher syndrome, a dominantly inherited combination of distal limb and genital tract abnormalities, has several features in common with hand-foot-genital syndrome (HFGS), including hypoplastic first digits and hypospadias. The presence of features not seen in H

MSH2 missense mutations and HNPCC syndro
MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system
✍ Laura Belvederesi; Francesca Bianchi; Eva Galizia; Cristian Loretelli; Raffaella 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 980 KB

Hereditary Non-Polyposis Colorectal Cancer (HNPCC) is associated with germline mutations in one of several MisMatch Repair (MMR) genes. An increasing proportion (20-25%) of the reported MSH2 variants consists of single amino-acid substitution with uncertain disease-causing significance. The present