[PDF][PDF] Sequencing the GRHL3 coding region reveals rare truncating mutations and a common susceptibility variant for nonsyndromic cleft palate

…, MM Nöthen, G Borck, KA Aldhorae, B Lace… - The American Journal of …, 2016 - cell.com
… Thr454Met (B). Protein-binding sites are also indicated within disordered regions. The
black line indicates the variant position around which a set of 19 consecutive amino acids (…

[PDF][PDF] Shaping small bioactive molecules to untangle their biological function: a focus on fluorescent plant hormones

B Lace, C Prandi - Molecular plant, 2016 - cell.com
… As discriminating features they bear one or two methyl groups in the A ring and one or
more hydroxyl or acetoxyl group in the A/B-ring moiety. Also, the stereochemistry at the B/C …

EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia

…, MG Pauly, AA Kühn, J Volkmann, B Lace… - Annals of …, 2021 - Wiley Online Library
… WES/WGS databases yielded a total of 3 unrelated probands (B-II-1, C-II-1, D-II-1) with …
B-II-1), who inherited the variant from his asymptomatic and neurologically normal father (Family B

[HTML][HTML] Interaction between IRF6 and TGFA Genes Contribute to the Risk of Nonsyndromic Cleft Lip/Palate

…, S Daack-Hirsch, ML Marazita, EE Castilla, B Lace… - 2012 - journals.plos.org
Previous evidence from tooth agenesis studies suggested IRF6 and TGFA interact. Since
tooth agenesis is commonly found in individuals with cleft lip/palate (CL/P), we used four large …

RPG acts as a central determinant for infectosome formation and cellular polarization during intracellular rhizobial infections

B Lace, C Su, DI Perez, M Rodriguez-Franco, T Vernié… - Elife, 2023 - elifesciences.org
… (B) Representative confocal images of aberrant ITs formed 35 dpi within root hairs of rpg- 1
and rpg- 2 roots compared to thin and elongated infection threads (ITs) of the corresponding …

[PDF][PDF] Mutations in PIGB cause an inherited GPI biosynthesis defect with an axonal neuropathy and metabolic abnormality in severe cases

…, PK Raju, A Knaus, S Ellard, G Jones, B Lace… - The American Journal of …, 2019 - cell.com
Proteins anchored to the cell surface via glycosylphosphatidylinositol (GPI) play various key
roles in the human body, particularly in development and neurogenesis. As such, many …

Robot-assisted minimally invasive Ivor Lewis esophagectomy with real-time perfusion assessment

A Hodari, KU Park, B Lace, A Tsiouris… - The Annals of thoracic …, 2015 - Elsevier
Background Surgical resection is viewed as the most effective way to ensure both locoregional
control and long-term survival in esophageal cancer. Although minimally invasive …

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

…, B Keena, EW Klee, K Kloth, B Lace… - European Journal of …, 2020 - nature.com
There has been one previous report of a cohort of patients with variants in Chromodomain
Helicase DNA-binding 3 (CHD3), now recognized as Snijders Blok-Campeau syndrome. …

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms

…, A Kariminejad, J Kogan, B Lace… - American Journal of …, 2023 - Wiley Online Library
… (b) Variable upper limb differences seen in CdLS ranging from severe oligodactyly on the
left to small hands with single palmar creases and hypoplasia of the fifth finger. (c) Simplified …

Commonalities and differences in controlling multipartite intracellular infections of legume roots by symbiotic microbes

B Lace, T Ott - Plant and Cell Physiology, 2018 - academic.oup.com
… (B) Close-up of M. truncatula wild type co-inoculated with R. … Scale bars indicate 700 μm (A)
and 50 μm (B). … (B) Close-up of M. truncatula wild type co-inoculated with R. irregularis and S…