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De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.
Ward SK, Wadley A, Tsai CA, Benke PJ, Emrick L, Fisher K, Houck KM, Dai H; Undiagnosed Diseases Network; Guillen Sacoto MJ, Craigen W, Glaser K, Murdock DR, Rohena L, Diderich KEM, Bruggenwirth HT, Lee B, Bacino C, Burrage LC, Rosenfeld JA. Ward SK, et al. Am J Med Genet A. 2024 Jan;194(1):17-30. doi: 10.1002/ajmg.a.63399. Epub 2023 Sep 25. Am J Med Genet A. 2024. PMID: 37743782
All five patients are heterozygous for a de novo missense variant in ZBTB47, with p.(Glu680Gly) (c.2039A>G) detected in one patient and p.(Glu477Lys) (c.1429G>A) identified in the other four patients. ...
All five patients are heterozygous for a de novo missense variant in ZBTB47, with p.(Glu680Gly) (c.2039A>G) detected in one patien …
Cardiovascular Efficacy and Safety of Bococizumab in High-Risk Patients.
Ridker PM, Revkin J, Amarenco P, Brunell R, Curto M, Civeira F, Flather M, Glynn RJ, Gregoire J, Jukema JW, Karpov Y, Kastelein JJP, Koenig W, Lorenzatti A, Manga P, Masiukiewicz U, Miller M, Mosterd A, Murin J, Nicolau JC, Nissen S, Ponikowski P, Santos RD, Schwartz PF, Soran H, White H, Wright RS, Vrablik M, Yunis C, Shear CL, Tardif JC; SPIRE Cardiovascular Outcome Investigators. Ridker PM, et al. N Engl J Med. 2017 Apr 20;376(16):1527-1539. doi: 10.1056/NEJMoa1701488. Epub 2017 Mar 17. N Engl J Med. 2017. PMID: 28304242 Free article. Clinical Trial.
Implication of LRRC4C and DPP6 in neurodevelopmental disorders.
Maussion G, Cruceanu C, Rosenfeld JA, Bell SC, Jollant F, Szatkiewicz J, Collins RL, Hanscom C, Kolobova I, de Champfleur NM, Blumenthal I, Chiang C, Ota V, Hultman C, O'Dushlaine C, McCarroll S, Alda M, Jacquemont S, Ordulu Z, Marshall CR, Carter MT, Shaffer LG, Sklar P, Girirajan S, Morton CC, Gusella JF, Turecki G, Stavropoulos DJ, Sullivan PF, Scherer SW, Talkowski ME, Ernst C. Maussion G, et al. Am J Med Genet A. 2017 Feb;173(2):395-406. doi: 10.1002/ajmg.a.38021. Epub 2016 Oct 19. Am J Med Genet A. 2017. PMID: 27759917 Free PMC article.
The proband harbored a maternally inherited balanced translocation (46,XY,t(11;14)(p12;p12)mat) that disrupted LRRC4C, a member of the highly specialized netrin G family of axon guidance molecules. The proband also inherited a paternally derived chromosomal inversion that …
The proband harbored a maternally inherited balanced translocation (46,XY,t(11;14)(p12;p12)mat) that disrupted LRRC4C, a member of the highl …
A general approach to site-specific antibody drug conjugates.
Tian F, Lu Y, Manibusan A, Sellers A, Tran H, Sun Y, Phuong T, Barnett R, Hehli B, Song F, DeGuzman MJ, Ensari S, Pinkstaff JK, Sullivan LM, Biroc SL, Cho H, Schultz PG, DiJoseph J, Dougher M, Ma D, Dushin R, Leal M, Tchistiakova L, Feyfant E, Gerber HP, Sapra P. Tian F, et al. Proc Natl Acad Sci U S A. 2014 Feb 4;111(5):1766-71. doi: 10.1073/pnas.1321237111. Epub 2014 Jan 17. Proc Natl Acad Sci U S A. 2014. PMID: 24443552 Free PMC article.
Using an expanded genetic code, antibodies with site-specifically incorporated nonnative amino acids were produced in stable cell lines derived from a CHO cell line with titers over 1 g/L. Using anti-5T4 and anti-Her2 antibodies as model systems, site-specific antibody dru …
Using an expanded genetic code, antibodies with site-specifically incorporated nonnative amino acids were produced in stable cell lines deri …
Dual role of mitochondria in producing melatonin and driving GPCR signaling to block cytochrome c release.
Suofu Y, Li W, Jean-Alphonse FG, Jia J, Khattar NK, Li J, Baranov SV, Leronni D, Mihalik AC, He Y, Cecon E, Wehbi VL, Kim J, Heath BE, Baranova OV, Wang X, Gable MJ, Kretz ES, Di Benedetto G, Lezon TR, Ferrando LM, Larkin TM, Sullivan M, Yablonska S, Wang J, Minnigh MB, Guillaumet G, Suzenet F, Richardson RM, Poloyac SM, Stolz DB, Jockers R, Witt-Enderby PA, Carlisle DL, Vilardaga JP, Friedlander RM. Suofu Y, et al. Proc Natl Acad Sci U S A. 2017 Sep 19;114(38):E7997-E8006. doi: 10.1073/pnas.1705768114. Epub 2017 Sep 5. Proc Natl Acad Sci U S A. 2017. PMID: 28874589 Free PMC article.
G protein-coupled receptors (GPCRs) are classically characterized as cell-surface receptors transmitting extracellular signals into cells. Here we show that central components of a GPCR signaling system comprised of the melatonin type 1 receptor (MT(1)), its associated …
G protein-coupled receptors (GPCRs) are classically characterized as cell-surface receptors transmitting extracellular signals into c …
CD209L (L-SIGN) is a receptor for severe acute respiratory syndrome coronavirus.
Jeffers SA, Tusell SM, Gillim-Ross L, Hemmila EM, Achenbach JE, Babcock GJ, Thomas WD Jr, Thackray LB, Young MD, Mason RJ, Ambrosino DM, Wentworth DE, Demartini JC, Holmes KV. Jeffers SA, et al. Proc Natl Acad Sci U S A. 2004 Nov 2;101(44):15748-53. doi: 10.1073/pnas.0403812101. Epub 2004 Oct 20. Proc Natl Acad Sci U S A. 2004. PMID: 15496474 Free PMC article.
J., Vasilieva, N., Sui, J., Wong, S. K., Berne, M. A., Somasundaran, M., Sullivan, J. L., Luzuriaga, K., Greenough, T. C., et al. (2003) Nature 426, 450-454]. We have identified a different human cellular glycoprotein that can serve as an alternative receptor for SARS-CoV. …
J., Vasilieva, N., Sui, J., Wong, S. K., Berne, M. A., Somasundaran, M., Sullivan, J. L., Luzuriaga, K., Greenough, T. C., et al. (20 …
Heterozygous germline BLM mutations increase susceptibility to asbestos and mesothelioma.
Bononi A, Goto K, Ak G, Yoshikawa Y, Emi M, Pastorino S, Carparelli L, Ferro A, Nasu M, Kim JH, Suarez JS, Xu R, Tanji M, Takinishi Y, Minaai M, Novelli F, Pagano I, Gaudino G, Pass HI, Groden J, Grzymski JJ, Metintas M, Akarsu M, Morrow B, Hassan R, Yang H, Carbone M. Bononi A, et al. Proc Natl Acad Sci U S A. 2020 Dec 29;117(52):33466-33473. doi: 10.1073/pnas.2019652117. Epub 2020 Dec 14. Proc Natl Acad Sci U S A. 2020. PMID: 33318203 Free PMC article.
We found 2 deleterious germline BLM(+/-) mutations within 2 of 33 families with multiple cases of mesothelioma, one from Turkey (c.569_570del; p.R191Kfs*4) and one from the United States (c.968A>G; p.K323R). Some of the relatives who inherited these mutations developed …
We found 2 deleterious germline BLM(+/-) mutations within 2 of 33 families with multiple cases of mesothelioma, one from Turkey (c.569_570de …
Identification of MIR390a precursor processing-defective mutants in Arabidopsis by direct genome sequencing.
Cuperus JT, Montgomery TA, Fahlgren N, Burke RT, Townsend T, Sullivan CM, Carrington JC. Cuperus JT, et al. Proc Natl Acad Sci U S A. 2010 Jan 5;107(1):466-71. doi: 10.1073/pnas.0913203107. Epub 2009 Dec 14. Proc Natl Acad Sci U S A. 2010. PMID: 20018656 Free PMC article.
A direct genome sequencing-based approach to both map and rapidly identify one of the latter mutant alleles was developed. This revealed a G-to-A point mutation (mir390a-1) that was calculated to stabilize a relatively nonpaired region near the base of the MIR390a foldback …
A direct genome sequencing-based approach to both map and rapidly identify one of the latter mutant alleles was developed. This revealed a …
33 results