Rethinking disomy: Autosomal expression bias and personal evolution. New review from Dusan Bogunovic @bogunoviclab.bsky.social @columbiamed.bsky.social: rupress.org/jem/article/...
#Immunodeficiency #HumanDiseaseGenetics #GenesAndImmunity
The STING HAQ haplotype and clinical non-penetrance in COPA syndrome. New report from Clémence David, Marie-Louise Frémond @mlfremond.bsky.social @institutimagine.bsky.social @upcite.bsky.social and colleagues: rupress.org/jem/article/...
#HumanDiseaseGenetics #InnateImmunity #inflammation
In @jem.org, David, @mlfremond.bsky.social et al. investigate whether the common HAQ STING allele explains clinical non-penetrance in COPA syndrome. rupress.org/jem/article/...
#HumanDiseaseGenetics #InnateImmunity #inflammation
David, @mlfremond.bsky.social et al. investigate whether the common HAQ STING allele explains clinical non-penetrance in COPA syndrome. rupress.org/jem/article/...
#HumanDiseaseGenetics #InnateImmunity #inflammation
Siniscalco, Fisher, Lu, Eisenbarth, Gowthaman et al. reveal that DOCK8 and STAT3 cooperate in CD4⁺ T cells to restrain Tfh13 differentiation and prevent food-specific IgE. rupress.org/jem/article/...
#LymphocyteBiology #MucosalImmunology #HumanDiseaseGenetics
Pauline Bronnec, @cinflammasome.bsky.social et al. developed SpeckSeq, which classifies MEFV variants of uncertain significance to refine molecular diagnostics and improve our knowledge on the pyrin #inflammasome rupress.org/jem/article/...
#HumanDiseaseGenetics #Autoimmunity #Autoinflammation
In this review, Stojcic et al. @turveylab.bsky.social comprehensively discuss known inborn errors of IRFs and how they contribute to our understanding of human biology, and provide a framework for their diagnosis and treatment. rupress.org/jem/article/...
#Immunodeficiency #HumanDiseaseGenetics
Monogenic disorders of the IRF transcription factors. New review from Mattison Stojcic, Pariya Yousefi, Catherine Biggs, and Stuart Turvey @turveylab.bsky.social: rupress.org/jem/article/...
#Immunodeficiency #HumanDiseaseGenetics #GenesAndImmunity #InbornErrorsOfImmunity
Stojcic et al. @turveylab.bsky.social review the biology and clinical features of inborn errors of IRFs, a group of monogenic disorders affecting the IRF family of transcription factors. rupress.org/jem/article/...
#Immunodeficiency #HumanDiseaseGenetics #GenesAndImmunity
New study from Werner, Mogensen et al. @au.dk this study identifies genetically heterozygous but transcriptionally homozygous IRF7 deficiency as #InbornErrorsOfImmunity underlying #herpesvirus central nervous system infection. rupress.org/jem/article/...
#HumanDiseaseGenetics #Immunodeficiency
Herpesvirus CNS infections in genetically heterozygous - transcriptionally homozygous IRF7 deficiency. New study from Marvin Werner, Trine Mogensen and colleagues @au.dk: rupress.org/jem/article/...
#HumanDiseaseGenetics #Immunodeficiency #InfectiousDisease #HostDefense #InbornErrorsOfImmunity
Pathogenesis of #polyglutamine diseases: Piecing together a complex molecular puzzle. New review from Esmeralda Villavicencio Gonzalez and Huda Zoghbi @bcmhouston.bsky.social: rupress.org/jem/article/...
#HumanDiseaseGenetics #Neuroscience
Werner, Mogensen et al. @au.dk identify genetically heterozygous and transcriptionally homozygous deficiency of IRF7 as an inborn error of interferon immunity underlying #herpesvirus CNS infection. rupress.org/jem/article/...
#HumanDiseaseGenetics #Immunodeficiency #InfectiousDisease #HostDefense
In @jem.org, Werner, Mogensen et al. @au.dk identify genetically heterozygous and transcriptionally homozygous deficiency of IRF7 as an inborn error of interferon immunity underlying #herpesvirus CNS infection. rupress.org/jem/article/...
#HumanDiseaseGenetics #Immunodeficiency #InfectiousDisease
New findings from Qing Chang, Jian-Fu Chen et al. @usc.edu show lymphatic vessels are present in the skull periosteum but absent in bone marrow, with channel and bone marrow heterogeneity varying by skull region and age. rupress.org/jem/article/...
#HumanDiseaseGenetics
Identification of lymphatic vessels in skull periosteum but not bone marrow reveals skull channel heterogeneity. New report from Qing Chang, Jian-Fu Chen and colleagues @usc.edu: rupress.org/jem/article/...
#HumanDiseaseGenetics
Qing Chang, Jian-Fu Chen et al. @usc.edu identify lymphatic vasculature on the outer surface of the skull but not inside the skull bone marrow, and reveal skull channel and bone marrow heterogeneity varying by region and age. rupress.org/jem/article/...
#HumanDiseaseGenetics
In @jem.org, Qing Chang, Jian-Fu Chen et al. @usc.edu identify lymphatic vasculature on the outer surface of the skull but not inside the skull bone marrow, and reveal skull channel and bone marrow heterogeneity varying by region and age. rupress.org/jem/article/...
#HumanDiseaseGenetics
A novel #zebrafish model from @ivanbassi.bsky.social, @karinayaniv.bsky.social et al. @weizmanninstitute.bsky.social provides a powerful platform to dissect kaposiform lymphangiomatosis (KLA) pathogenesis and identify new therapeutic avenues. rupress.org/jem/article/...
#HumanDiseaseGenetics
In @jem.org, Bassi et al. @karinayaniv.bsky.social @weizmanninstitute.bsky.social use #zebrafish to help identify new treatments for a severe lymphatic malformation. rupress.org/jem/article/...
#CardiovascularBiology #HumanDiseaseGenetics
Bassi et al. @karinayaniv.bsky.social @weizmanninstitute.bsky.social use #zebrafish to help identify new treatments for a severe lymphatic malformation. rupress.org/jem/article/...
#CardiovascularBiology #HumanDiseaseGenetics
The STING pathway drives non-inflammatory #neurodegeneration in NGLY1 deficiency, say Kun Yang, Nan Yan and colleagues (UT Southwestern Medical Center): rupress.org/jem/article/...
#Neuroscience #InnateImmunity #inflammation #HumanDiseaseGenetics
Human Immunity to Fungal Infections. New review from Donald Vinh @donvinh.bsky.social @mcgill.ca: rupress.org/jem/article/...
#InfectiousDisease #HostDefense #HumanDiseaseGenetics #Immunodeficiency
Suppression of BRCA1 facilitates kidney regeneration. Kaira Church, Xunian Zhou, and Raghu Kalluri @mdanderson.bsky.social discuss new study by Ajay et al. (rupress.org/jem/article/...) in Insights: rupress.org/jem/article/...
#HumanDiseaseGenetics
Dominant interfering CARD11 variants disrupt JNK signaling to promote GATA3 expression in T cells, say Bradly Bauman, Andrew Snow @USUhealthsci and colleagues: rupress.org/jem/article/...
#LymphocyteBiology #Immunodeficiency #HumanDiseaseGenetics
The common HAQ STING allele prevents clinical penetrance of COPA syndrome, say Noa Simchoni, Anthony Shum and colleagues @UCSF: buff.ly/3DjfwUg
#HumanDiseaseGenetics #Autoimmunity
HMCN1 variants aggravate #EpidermolysisBullosa simplex phenotype, say Shir Bergson, Ofer Sarig, Eli Sprecher and colleagues: https://buff.ly/4gPt5ZA
#HumanDiseaseGenetics
