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A Novel Germline Heterozygous BCL11B Variant Causing Severe Atopic Disease and Immune Dysregulation.
Published in:
Frontiers in Immunology, 2021, v. 12, p. 1, doi. 10.3389/fimmu.2021.788278
By:
- Lu, Henry Y.;
- Sertori, Robert;
- Contreras, Alejandra V.;
- Hamer, Mark;
- Messing, Melina;
- Del Bel, Kate L.;
- Lopez-Rangel, Elena;
- Chan, Edmond S.;
- Rehmus, Wingfield;
- Milner, Joshua D.;
- McNagny, Kelly M.;
- Lehman, Anna;
- Wiest, David L.;
- Turvey, Stuart E.
Publication type:
Article
Naturally occurring splice variants dissect the functional domains of BHC80 and emphasize the need for RNA analysis.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63548
By:
- Hejla, Duha;
- Huynh, Stephanie;
- Samra, Simran;
- Richmond, Phillip A.;
- Dalmann, Joshua;
- Del Bel, Kate L.;
- Byres, Loryn;
- Lehman, Anna;
- Turvey, Stuart E.;
- Boerkoel, Cornelius F.
Publication type:
Article
Generation of tandem alternative splice acceptor sites and CLTC haploinsufficiency: A cause of CLTC‐related disorder.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2219, doi. 10.1002/ajmg.a.63249
By:
- Sage, Adam P.;
- Lee, Hyun Kyung;
- Dalmann, Joshua;
- Lin, Susan;
- Samra, Simran;
- Salman, Areesha;
- Del Bel, Kate L.;
- Li, Wenhui Laura;
- Lehman, Anna;
- Turvey, Stuart E.;
- Boerkoel, Cornelius F.;
- Richmond, Phillip A.
Publication type:
Article
Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz–Jeghers syndrome?
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3089, doi. 10.1002/ajmg.a.62942
By:
- Gazzaz, Nour;
- Frost, F. Graeme;
- Alderman, Emily;
- Richmond, Phillip A.;
- Dalmann, Joshua;
- Lin, Susan;
- Salman, Areesha;
- Del Bel, Kate L.;
- Lehman, Anna;
- Turvey, Stuart E.;
- Boerkoel, Cornelius F.;
- Cherukuri, Praveen F.
Publication type:
Article
IVIg and LPS Co-stimulation Induces IL-10 Production by Human Monocytes, Which Is Compromised by an FcγRIIA Disease-Associated Gene Variant.
Published in:
Frontiers in Immunology, 2018, p. N.PAG, doi. 10.3389/fimmu.2018.02676
By:
- Kozicky, Lisa K.;
- Menzies, Susan C.;
- Zhao, Zheng Yu;
- Vira, Tariq;
- Harnden, Kiera;
- Safari, Kwestan;
- Del Bel, Kate L.;
- Turvey, Stuart E.;
- Sly, Laura M.
Publication type:
Article
Delayed gut microbiota maturation in the first year of life is a hallmark of pediatric allergic disease.
Published in:
Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-40336-4
By:
- Hoskinson, Courtney;
- Dai, Darlene L. Y.;
- Del Bel, Kate L.;
- Becker, Allan B.;
- Moraes, Theo J.;
- Mandhane, Piushkumar J.;
- Finlay, B. Brett;
- Simons, Elinor;
- Kozyrskyj, Anita L.;
- Azad, Meghan B.;
- Subbarao, Padmaja;
- Petersen, Charisse;
- Turvey, Stuart E.
Publication type:
Article
Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy.
Published in:
2021
By:
- Modi, Bhavi P.;
- Del Bel, Kate L.;
- Lin, Susan;
- Sharma, Mehul;
- Richmond, Phillip A.;
- van Karnebeek, Clara D. M.;
- Chan, Edmond S.;
- Avinashi, Vishal;
- Rehmus, Wingfield E.;
- Biggs, Catherine M.;
- Wasserman, Wyeth W.;
- Turvey, Stuart E.
Publication type:
Letter
A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases.
Published in:
Journal of Clinical Immunology, 2020, v. 40, n. 2, p. 267, doi. 10.1007/s10875-019-00731-3
By:
- Novice, Taylor;
- Kariminia, Amina;
- Del Bel, Kate L.;
- Lu, Henry;
- Sharma, Mehul;
- Lim, Chinten J.;
- Read, Jay;
- Lugt, Mark Vander;
- Hannibal, Mark C.;
- O'Dwyer, David;
- Hosler, Mirie;
- Scharnitz, Thomas;
- Rizzo, Jason M;
- Zacur, Jennifer;
- Priatel, John;
- Abdossamadi, Sayeh;
- Bohm, Alexandra;
- Junker, Anne;
- Turvey, Stuart E.;
- Schultz, Kirk R.
Publication type:
Article
Rhizobium leguminosarummethyl-accepting chemotaxis protein genes are down-regulated in the pea nodule.
Published in:
Archives of Microbiology, 2004, v. 182, n. 6, p. 505, doi. 10.1007/s00203-004-0736-7
By:
- Yost, Christopher K.;
- Del Bel, Kate L.;
- Quandt, Jürgen;
- Hynes, Michael F.
Publication type:
Article
Idiopathic splenomegaly in childhood and the spectrum of RAS-associated lymphoproliferative disease: a case report.
Published in:
2021
By:
- Blanchard-Rohner, Geraldine;
- Ragotte, Robert J.;
- Junker, Anne K.;
- Sharma, Mehul;
- Del Bel, Kate L.;
- Lu, Henry Y.;
- Erdle, Stephanie;
- Chomyn, Alanna;
- Gill, Harinder;
- Tucker, Lori B.;
- Schreiber, Richard A.;
- Rozmus, Jacob;
- Biggs, Catherine M.;
- Hildebrand, Kyla J.;
- Wu, John;
- Stockler-Ipsiroglu, Sylvia;
- Turvey, Stuart E.
Publication type:
journal article
Characterization and functional analysis of seven flagellin genes in Rhizobium leguminosarum bv. viciae. Characterization of R. leguminosarum flagellins.
Published in:
BMC Microbiology, 2010, v. 10, p. 219, doi. 10.1186/1471-2180-10-219
By:
- Tambalo, Dinah D.;
- Bustard, Denise E.;
- Del Bel, Kate L.;
- Koval, Susan F.;
- Khan, Morgan F.;
- Hynes, Michael F.
Publication type:
Article
Characterization of the nodulation plasmid encoded chemoreceptor gene mcpG from Rhizobium leguminosarum.
Published in:
BMC Microbiology, 2003, v. 3, p. 1, doi. 10.1186/1471-2180-3-1
By:
- Yost, Christopher K.;
- Clark, Kirsten T.;
- Del Bel, Kate L.;
- Hynes, Michael F.
Publication type:
Article

Found: 12