It is indicated that Snrpb dysfunction disrupts the early specification of axial skeletal identity without overtly altering somite patterning, establishing the first in vivo model of CCMS-associated axial skeletal abnormalities and indicating that Snrpb dysfunction contribute to disease pathogenesis.
BACKGROUND
Approximately 10% of patients with Severe Combined Immunodeficiency (SCID) phenotype lack a known genetic cause. In particular, the molecular basis of thymic defects is poorly understood. Homeobox (HOX) genes encode conserved transcription factors that control spatial body development. The function of human...
Sarah S. Dinges, M. Bosticardo, Anke Hirschfelder et al.· Journal of Allergy and Clini...· 0 citations
Re-analysis of human fetal cortex single-cell RNA sequencing data demonstrated that SEMA6A and FLNA are significantly co-expressed in apical radial glia and newborn excitatory neurons, suggesting that SEMA6A is a candidate contributor to neuronal migration defects in 5q22.3-q23.3 deletions.
K. Kora, Takeshi Yoshida, Atsuko Ikegawa et al.· Journal of Human Genetics· 0 citations
The findings establish a causal link between MSX2 upstream duplications and CCD‐like phenotypes, emphasizing the role of epigenetic mechanisms and TAD structures in regulating skeletal development.
Mamiko Yamada, M. Cleghorn, Prabhakara Krishnamurthy et al.· Human Mutation· 0 citations
It is demonstrated that gap10 deletion disrupts body axis extension, left-right organizer (LRO) formation, and ciliogenesis, leading to severe cardiac looping defects that closely mirror human CHD phenotypes in Xenopus.
Ewelina Sochacka, Savanna Hinson, David R. Shook et al.· iScience· 0 citations
Light is shed on TCF4 as a key regulator of neural crest-derived lineages that contribute to craniofacial and Enteric Nervous System development and a new perspective on two major clinical features of PTHS is provided.
M. Orefice, Francesca Remondino, Irene Pieraccioni et al.· Frontiers in Cell and Develo...· 0 citations
Introduction VACTERL association is a congenital disorder characterized by the non-random co-occurrence of vertebral, anal, cardiac, tracheo-esophageal, renal, and limb anomalies. WBP11 has been identified as a candidate causative gene; however, existing heterozygous Wbp11 knockout mice recapitulate only a subset of th...
Yu Chen, Shiqi You, Ying-Shuo Zhang et al.· Frontiers in Cell and Develo...· 0 citations
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