SD5 HOXD13

Joining the fingers: a HOXD13 Story.

Nathalie,Brison, Philippe,Debeer, Przemko,Tylzanowski

Resources for Genetics Professionals — Genetic Disorders Caused by Nucleotide Repeat Expansions and Contractions

Stephanie E.,Wallace, Lora JH,Bean

Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13.

Y,Muragaki, S,Mundlos, J,Upton, B R,Olsen

Eight-alanine duplication in homeobox D13 in a Chinese family with synpolydactyly.

Qian,Xin, Lin,Li, Jiangxia,Li, Rongfang,Qiu, Chenhong,Guo, Yaoqin,Gong, Qiji,Liu

Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications.

Indhu-Shree,Rajan-Babu, Egor,Dolzhenko, Michael A,Eberle, Jan M,Friedman

Genome sequencing in families with congenital limb malformations.

Jonas,Elsner, Martin A,Mensah, Manuel,Holtgrewe, Jakob,Hertzberg, Stefania,Bigoni, Andreas,Busche, Marie,Coutelier, Deepthi C,de Silva, Nursel,Elçioglu, Isabel,Filges, Erica,Gerkes, Katta M,Girisha, Luitgard,Graul-Neumann, Aleksander,Jamsheer, Peter,Krawitz, Ingo,Kurth, Susanne,Markus, Andre,Megarbane, André,Reis, Miriam S,Reuter, Daniel,Svoboda, Christopher,Teller, Beyhan,Tuysuz, Seval,Türkmen, Meredith,Wilson, Rixa,Woitschach, Inga,Vater, Almuth,Caliebe, Wiebke,Hülsemann, Denise,Horn, Stefan,Mundlos, Malte,Spielmann

TLR2/6 signaling promotes the expansion of premalignant hematopoietic stem and progenitor cells in the NUP98-HOXD13 mouse model of MDS.

Darlene A,Monlish, Zev J,Greenberg, Sima T,Bhatt, Kathryn M,Leonard, Molly P,Romine, Qian,Dong, Lauren,Bendesky, Eric J,Duncavage, Jeffrey A,Magee, Laura G,Schuettpelz

Unblending of Transcriptional Condensates in Human Repeat Expansion Disease.

Shaon,Basu, Sebastian D,Mackowiak, Henri,Niskanen, Dora,Knezevic, Vahid,Asimi, Stefanie,Grosswendt, Hylkje,Geertsema, Salaheddine,Ali, Ivana,Jerković, Helge,Ewers, Stefan,Mundlos, Alexander,Meissner, Daniel M,Ibrahim, Denes,Hnisz

A NUP98-HOXD13 fusion gene impairs differentiation of B and T lymphocytes and leads to expansion of thymocytes with partial TCRB gene rearrangement.

Chul Won,Choi, Yang Jo,Chung, Christopher,Slape, Peter D,Aplan

Fork stalling and template switching as a mechanism for polyalanine tract expansion affecting the DYC mutant of HOXD13, a new murine model of synpolydactyly.

Olivier,Cocquempot, Véronique,Brault, Charles,Babinet, Yann,Herault

Molecular characterization of HOXA13 polyalanine expansion proteins in hand-foot-genital syndrome.

Boris,Utsch, Colleen D,McCabe, Kenneth,Galbraith, Ricardo,Gonzalez, Mark,Born, Jörg,Dötsch, Michael,Ludwig, Heiko,Reutter, Jeffrey W,Innis

Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13.

P,Debeer, C,Bacchelli, P J,Scambler, L,De Smet, J-P,Fryns, F R,Goodman

HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg.

Klaus Wilbrandt,Kjaer, Jess,Hedeboe, Merete,Bugge, Claus,Hansen, Karen,Friis-Henriksen, Maria Baeksted,Vestergaard, Niels,Tommerup, John M,Opitz

The mouse Hoxd13(spdh) mutation, a polyalanine expansion similar to human type II synpolydactyly (SPD), disrupts the function but not the expression of other Hoxd genes.

S,Bruneau, K R,Johnson, M,Yamamoto, A,Kuroiwa, D,Duboule