Common variable immunodeficiency, cross currents, and prevailing winds

N Romberg, C Le Coz - Immunological Reviews, 2024 - Wiley Online Library
Common variable immunodeficiency (CVID) is a heterogenous disease category created to
distinguish late‐onset antibody deficiencies from early‐onset diseases like …

PI3Kγ in B cells promotes antibody responses and generation of antibody-secreting cells

SM Lanahan, L Yang, KM Jones, Z Qi, EC Cabrera… - Nature …, 2024 - nature.com
The differentiation of naive and memory B cells into antibody-secreting cells (ASCs) is a key
feature of adaptive immunity. The requirement for phosphoinositide 3-kinase-delta (PI3Kδ) …

[HTML][HTML] Variant to gene mapping for carpal tunnel syndrome risk loci implicates skeletal muscle regulatory elements

MC Pahl, L Liu, JA Pippin, Y Wagley, K Boehm… - Ebiomedicine, 2024 - thelancet.com
Background Carpal tunnel syndrome (CTS) is a common disorder caused by compression of
the median nerve in the wrist, resulting in pain and numbness throughout the hand and …

[HTML][HTML] 3D genomic features across> 50 diverse cell types reveal insights into the genomic architecture of childhood obesity

KB Trang, MC Pahl, JA Pippin, C Su, SH Littleton… - medRxiv, 2024 - ncbi.nlm.nih.gov
The prevalence of childhood obesity is increasing worldwide, along with the associated
common comorbidities of type 2 diabetes and cardiovascular disease in later life. Motivated …

Exploring the protective association between COVID-19 infection and laryngeal cancer: insights from a Mendelian randomization study

H Wang, N Fang, P Mozumder, R Jiang… - Frontiers in …, 2024 - frontiersin.org
Introduction Viral infections have been implicated as a risk factor for laryngeal cancer. Given
the possible effects of Corona virus disease 2019 (COVID-19) on the laryngeal tissue, we …

Variant-to-function analysis of the childhood obesity chr12q13 locus implicates rs7132908 as a causal variant within the 3′ UTR of FAIM2

SH Littleton, KB Trang, CM Volpe, K Cook, N DeBruyne… - Cell Genomics, 2024 - cell.com
The ch12q13 locus is among the most significant childhood obesity loci identified in genome-
wide association studies. This locus resides in a non-coding region within FAIM2; thus, the …

[HTML][HTML] GWAS-informed data integration and non-coding CRISPRi screen illuminate genetic etiology of bone mineral density

M Conery, JA Pippin, Y Wagley, K Trang, MC Pahl… - bioRxiv, 2024 - ncbi.nlm.nih.gov
Over 1,100 independent signals have been identified with genome-wide association studies
(GWAS) for bone mineral density (BMD), a key risk factor for mortality-increasing fragility …