MPP1/p55 gene deletion in a hemophilia A patient with ectrodactyly and severe developmental defects

Fritz, Daniel; Hanada, Toshihiko; Lu, Yunzhe; Johnston, Jonathan B.; Chishti, Athar H.

doi:10.1002/ajh.25323

Cited by 6 publications

(5 citation statements)

References 14 publications

(11 reference statements)

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“…F1 hybrids showed a threefold decrease in expression of mpp1 (p = .001; Figure 5f). Knockouts of this gene were recently shown to cause severe craniofacial defects in humans and mice (Fritz, Johnston, & Chishti, 2014). The other eight genes significantly associated with jaw size have not been previously shown to influence cranial phenotypes, but some have known functions in cell types relevant to craniofacial development (Table S11).…”

Section: Misexpressed Genes Under Selection Influence Adaptive Ecological Traits In Trophic Specialistsmentioning

confidence: 99%

Ecological divergence in sympatry causes gene misexpression in hybrids

McGirr

Martin

2020

Molecular Ecology

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Adaptive radiations showcase dramatic instances of biological diversification resulting from ecological speciation, which occurs when reproductive isolation evolves as a byproduct of adaptive divergence between populations (Nosil, 2012;Schluter, 2000).Ecological speciation predicts that populations adapting to different niches will accumulate genetic differences due to divergent ecological selection, indirectly resulting in reduced gene flow.Gene regulation is a major target of selection during adaptive divergence, with many known cases of divergent gene regulation underlying ecological traits

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Section: Misexpressed Genes Under Selection Influence Adaptive Ecological Traits In Trophic Specialistsmentioning

confidence: 99%

Ecological divergence in sympatry causes gene misexpression in hybrids

McGirr

Martin

2020

Molecular Ecology

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“…Literature search revealed only two articles where hemophilia was associated with congenital limb differences. 6,7 In our patient, the association is likely to be incidental.…”

Section: Discussionmentioning

confidence: 59%

Bleeding Post Constriction Ring Release Surgery Causing Lower Limb Ischemia in an Infant with Undetected Hemophilia B

Sabapathy

Mohan

Venkateswaran

et al. 2021

Indian J Plast Surg

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Bleeding in the immediate postoperative period causing compromised limb circulation is an alarming complication. It is known to occur in coagulation disorders like hemophilia. When such complications happen in a child with no previous history of bleeding problems, one has to have a low threshold for suspecting a coagulation disorder. Repeated diffuse bleeding in the whole of the surgical wound with no specific bleeders must raise the suspicion and appropriate laboratory tests must immediately be ordered. Bleeding in coagulation disorders can stop only with supplementation of the appropriate missing clotting factor. Early diagnosis is important to avoid excess morbidity. We are reporting a 6-month-old child who underwent surgery for constriction ring syndrome in the limbs with Z-plasty please replace with and developed impending limb ischemia due to bleeding in the immediate postoperative period. The article emphasizes the need to think of the possibility while encountering recurrent bleeding in the postoperative period.

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“…The Xi-modulated gene MPP1 is among the most positively correlated X chromosome genes with tumor grade in human TAM-MGs and control microglia, as well as in mouse TAM-MGs. MPP1 is associated with several human diseases, including developmental abnormalities, heart failure, and acute myeloid leukemia [46][47][48] . MPP1 is involved in organizing plasma membrane lipid domains and signaling complexes 49 , and has a known role in immune cell polarization and chemoattraction 50 .…”

Section: ) Xi-modulated Gene Mpp1 Has Sex-biased Immunoregulatory Eff...mentioning

confidence: 99%

The inactive X chromosome drives sex differences in microglial inflammatory activity in human glioblastoma

Tharp,

Han,

Balak

et al. 2024

Preprint

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SummaryBiological sex is an important risk factor in cancer, but the underlying cell types and mechanisms remain obscure. Since tumor development is regulated by the immune system, we hypothesize that sex-biased immune interactions underpin sex differences in cancer. The male-biased glioblastoma multiforme (GBM) is an aggressive and treatment-refractory tumor in urgent need of more innovative approaches, such as considering sex differences, to improve outcomes. GBM arises in the specialized brain immune environment dominated by microglia, so we explored sex differences in this immune cell type. We isolated adult human TAM-MGs (tumor-associated macrophages enriched for microglia) and control microglia and found sex-biased inflammatory signatures in GBM and lower-grade tumors associated with pro-tumorigenic activity in males and anti-tumorigenic activity in females. We demonstrated that genes expressed or modulated by the inactive X chromosome facilitate this bias. Together, our results implicate TAM-MGs, specifically their sex chromosomes, as drivers of male bias in GBM.

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MPP1/p55 gene deletion in a hemophilia A patient with ectrodactyly and severe developmental defects

Cited by 6 publications

References 14 publications

Ecological divergence in sympatry causes gene misexpression in hybrids

Ecological divergence in sympatry causes gene misexpression in hybrids

Bleeding Post Constriction Ring Release Surgery Causing Lower Limb Ischemia in an Infant with Undetected Hemophilia B

The inactive X chromosome drives sex differences in microglial inflammatory activity in human glioblastoma

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