SD5 HOXD13

Joining the fingers: a HOXD13 Story.

Nathalie,Brison, Philippe,Debeer, Przemko,Tylzanowski

Developmental dynamics : an official publication of the American Association of Anatomists · 2014-01-01

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

Stephanie E.,Wallace, Lora JH,Bean

GeneReviews® [Internet] · 2022-10-20

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

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

Science (New York, N.Y.) · 1996-04-26

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

Gene · 2012-03-03

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

Nature reviews. Genetics · 2024-03-11

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

Human genetics · 2021-06-22

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

Experimental hematology · 2020-07-08

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

Cell · 2020-05-07

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

Journal of immunology (Baltimore, Md. : 1950) · 2009-10-19

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

Genetics · 2009-06-22

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

American journal of medical genetics. Part A · 2007-12-15

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

Journal of medical genetics · 2002-11-01

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

American journal of medical genetics · 2002-06-15

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

Developmental biology · 2001-09-15