Congenital limb and hand anomalies

The enigmatic bone reduction pattern of thalidomide embryopathy is set by sequential exit from the sensitive window

The paper analyzes thalidomide-affected limbs to determine the sequential bone reduction pattern, identifying two co-reduction rules and a maturation wave mechanism.

TAR syndrome causal gene RBM8A is critical for embryonic bone development and proper Hedgehog signaling

This study shows that RBM8A is essential for bone development and Hedgehog signaling, with its deficiency causing skeletal defects and impaired endochondral ossification.

Maternal exercise rescues fetal akinesia-impaired joint and bone development

This study shows maternal exercise rescues skeletal defects in fetal akinesia by directly stimulating fetal joint and bone development through mechanical forces.

Single-cell profiling of penta- and tetradactyl mouse limb buds identifies mesenchymal progenitors controlling digit numbers and identities

This study identifies mesenchymal progenitors in mouse limb buds that regulate digit numbers and identities through BMP signaling and GREM1-mediated antagonism.

PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in Split Hand/Foot Malformation

The paper identifies PRDM1 variants causing Split Hand/Foot Malformation and shows their functional impact on limb development through zebrafish experiments and gene expression analysis.

Specific Deletion of Axin1 Leads to Activation of β-Catenin/BMP Signaling Resulting in Fibular Hemimelia Phenotype in Mice

This study shows that Axin1 deletion in mice causes fibular hemimelia by disrupting β-catenin and BMP signaling during limb development.

Prenatal murine skeletogenesis partially recovers from absent skeletal muscle as development progresses

This study examines how the absence of skeletal muscle affects prenatal skeletal development in mice, finding that most effects diminish over time, except for joint cavitation.

Excessive Mechanotransduction in Sensory Neurons Causes Joint Contractures in a Mouse Model of Arthrogryposis

The paper shows that a gain-of-function PIEZO2 mutation in sensory neurons causes joint contractures in mice, and that Botox and dietary fatty acids can alleviate these defects.

Characterization of coordinated growth in macrodactyly caused by somatic mosaic activating mutations in PIK3CA

This study characterizes macrodactyly, a localized overgrowth disorder, by linking it to somatic mosaic PIK3CA mutations and demonstrating nerve and vascular regulation of growth through a novel animal model.

Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve Split-Hand/Foot Malformation type 3

The paper investigates how genomic rearrangements at the Lbx1/Fgf8 locus cause SHFM3 by altering chromatin structure and gene expression in mice.

MESOMELIC DYSPLASIAS ASSOCIATED WITH THE HOXD LOCUS ARE CAUSED BY REGULATORY REALLOCATIONS

The paper shows that mesomelic dysplasia caused by HOXD locus rearrangements results from ectopic HOXD13 expression due to regulatory reallocations.

Joint development recovery on resumption of embryonic movement following paralysis

The study shows that movement after embryonic paralysis can partially recover joint development in chick embryos, with varying effectiveness across limb joints.

Mutual transcriptional repression between Gli3 and Hox13 genes determines the anterior-posterior asymmetry of the autopod

The paper investigates how mutual repression between Gli3 and Hox13 genes determines the anterior-posterior asymmetry of the autopod, explaining digit 1 agenesis in Hoxa13 mutants.

Effects of abnormal muscle forces on prenatal joint morphogenesis in mice

This study quantifies how reduced or absent muscle affects joint shape in mouse embryos, finding that reduced muscle has more pronounced effects than absent muscle, particularly on the elbow joint.

De-novo variants in XIRP1 associated with polydactyly and polysyndactyly in Holstein cattle

The paper identifies de-novo variants in XIRP1 associated with polydactyly and polysyndactyly in Holstein cattle through whole genome sequencing and bioinformatic analysis.

A familial case of Syndactyly type IV due to a novel duplication of ~222.23 kb covering exons 2-17 of the LMBR1 gene: a case report

The paper reports a familial case of Syndactyly type IV caused by a novel LMBR1 gene duplication, highlighting clinical variability and expanding the known phenotype.

Survival Beyond the Perinatal Period Expands the Phenotypes Caused by Mutations in GLE1

The paper reports two individuals with GLE1 mutations surviving beyond the perinatal period, expanding the phenotype of LAAHD to include childhood survival.

Identity-By-Descent Refines Mapping Of Candidate Regions For Preaxial Polydactyly In A Large Chinese Pedigree

The paper uses identity-by-descent analysis to refine the candidate region for preaxial polydactyly in a Chinese family, identifying two 380 Kb fragments on chromosome 7q36.