相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。AlphaFold Protein Structure Database: massively expanding the structural coverage of protein-sequence space with high-accuracy models
Mihaly Varadi et al.
NUCLEIC ACIDS RESEARCH (2022)
UniProt: the universal protein knowledgebase in 2021
Alex Bateman et al.
NUCLEIC ACIDS RESEARCH (2021)
Nonframeshifting indel variations in polyalanine repeat of HOXD13 gene underlies hereditary limb malformation for two Chinese families
Bailing Zu et al.
DEVELOPMENTAL DYNAMICS (2021)
A Novel Missense Variant of HOXD13 Caused Atypical Synpolydactyly by Impairing the Downstream Gene Expression and Literature Review for Genotype-Phenotype Correlations
Ruiji Guo et al.
FRONTIERS IN GENETICS (2021)
GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C-terminal third
Henrike Lisa Sczakiel et al.
CLINICAL GENETICS (2021)
Genome sequencing in families with congenital limb malformations
Jonas Elsner et al.
HUMAN GENETICS (2021)
Highly accurate protein structure prediction with AlphaFold
John Jumper et al.
NATURE (2021)
Unblending of Transcriptional Condensates in Human Repeat Expansion Disease
Shaon Basu et al.
CELL (2020)
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski et al.
NATURE (2020)
A heterozygous duplication variant of the HOXD13 gene caused synpolydactyly type 1 with variable expressivity in a Chinese family
Tahir Zaib et al.
BMC MEDICAL GENETICS (2019)
Identification of a missense HOXD13 mutation in a Chinese family with syndactyly type I-c using exome sequencing
Hao Deng et al.
MOLECULAR MEDICINE REPORTS (2017)
Exome sequencing identifies a novel nonsense mutation of HOXD13 in a Chinese family with synpolydactyly
Bo Wang et al.
CONGENITAL ANOMALIES (2017)
Regulation of cell polarity in the cartilage growth plate and perichondrium of metacarpal elements by HOXD13 and WNT5A
Pia Kuss et al.
DEVELOPMENTAL BIOLOGY (2014)
Joining the Fingers: A HOXD13 Story
Nathalie Brison et al.
DEVELOPMENTAL DYNAMICS (2014)
Mutations in the Homeodomain of HOXD13 Cause Syndactyly Type 1-c in Two Chinese Families
Limeng Dai et al.
PLOS ONE (2014)
Detection of nonneutral substitution rates on mammalian phylogenies
Katherine S. Pollard et al.
GENOME RESEARCH (2010)
Identification of a HOXD13 Mutation in a VACTERL Patient
Maria-Mercè Garcia-Barcelo et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)
Synpolydactyly: clinical and molecular advances
S. Malik et al.
CLINICAL GENETICS (2008)
Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences
Sajid Malik et al.
BMC MEDICAL GENETICS (2007)
Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome
Xiuli Zhao et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
A 72-year-old Danish puzzle resolved -: Comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions
KW Kjaer et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
A molecular pathogenesis for transcription factor associated poly-alanine tract expansions
AN Albrecht et al.
HUMAN MOLECULAR GENETICS (2004)
Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E
D Johnson et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
分享论文
