Results 171 to 180 of about 134,878 (263)

Multiplexed Fluorescent Microarrays on MIL-101(Cr) Thin Films as Luminescent Probes for pH and Disease-Associated Molecules. [PDF]

Small
Wang W, Yang W, Schliephake M, Zhao T, Liu Y, Hussain N, Breitung B, Schäfer AH, Levkin PA, Aghassi-Hagmann J, Powell AK, Hirtz M.   +11 more
europepmc   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Transcriptional Responses to Alkaline pH Across Fungi: Common and Differential Features, and Biotechnological Applications. [PDF]

Int J Mol Sci
Ariño J.
europepmc   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Editorial: Emerging Tools for Emerging Symbioses—Using Genomics Applications to Studying Endophytes

Frontiers in Microbiology, 2017
Mysore V. Tejesvi, Anna Maria Pirttilä, A. Carolin Frank   +2 more
doaj   +1 more source

Microarray Analysis of Human Abdominal Aortic Aneurysm With Emphasis on Cardiovascular Genes Revealed Differentially Expressed Genes. [PDF]

In Vivo
Lu S, Li LP, White JV, Zhang X, Nwaneshiudu I, Nwaneshiudu A, Ntaoula N, Gaughan J, Monos DS, Lin WL, Solomides CC, Oleszak EL, Platsoucas CD.   +12 more
europepmc   +1 more source

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source

Appropriate threshold setting and multiple methods combination may improve reproducibility of gene ontology enrichment analysis. [PDF]

Biochem Biophys Rep
Guo Q, Fu T, Wang N, Yu Q, Zhao Y.
europepmc   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Subtype-Independent Activation of NF-κB Signaling in Breast Cancer. [PDF]

Int J Mol Sci
Mitka-Krysiak E, Król-Jatręga K, Ossowski P, Zmarzły N, Bereza K, Ordon P, Sirek T, Sirek A, Boroń K, Boroń D, Wyrobiec G, Szczepanik T, Skorek M, Grabarek BO.   +13 more
europepmc   +1 more source