[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 (…
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 …
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…
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 …
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 …
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
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 …
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 …
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. …
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 …
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…
and 50 μm (B). … (B) Close-up of M. truncatula wild type co-inoculated with R. irregularis and S…