Results 191 to 200 of about 95,149 (294)

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

Single‐Injection Multi‐Omics Analysis by Direct Infusion Mass Spectrometry

Angewandte Chemie, EarlyView.
A high‐throughput direct infusion mass spectrometry platform, enabled by gas‐phase ion mobility separation, supports single‐injection analysis of peptides, polar metabolites, and lipids. Coupled with custom software, it identified ∽1,300 proteins and ∽600 metabolites in ∽4.3 minutes per sample, and demonstrated broad utility in macrophage polarization ...
Yuming Jiang, Ivan Salladay‐Perez, Amanda Momenzadeh, Jesús Muñoz‐Estrada, Uktarsh Tripathi, Anthony J. Covarrubias, Jesse G. Meyer   +6 more
wiley   +2 more sources

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

RATEX: A Scalable RNA‐Based Platform for Logical and Multi‐Layered Cellular Programming

Angewandte Chemie, EarlyView.
RATEX integrated ribosome‐mediated transcription control with synthetic RNA regulators, enabling simultaneous processing of RNA, metabolite, and small‐molecule inputs through complex logic operations within a single transcript. The platform achieves up to 1,492‐fold gene regulation, multi‐input hybrid logic gates, RNA‐programmed signaling cascades, and
Hyunseop Goh, Hansol Kang, Chaeri Kim, Jongmin Kim   +3 more
wiley   +2 more sources

Methanogenic archaea encoding Pyrrolysine maintain ambiguous amber codon usage. [PDF]

Proc Natl Acad Sci U S A
Shalvarjian KE, Chadwick GL, Pérez PI, Woods PH, Orphan VJ, Nayak DD.   +5 more
europepmc   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

RaPID Selection of Backbone Macrocyclic Peptides Targeting Akt2

Angewandte Chemie, EarlyView.
Backbone macrocyclic peptide library (BMP) library was screened against Akt2 via RaPID to discover potent BMPPakti‐3 (IC50 = 34 nM). ABSTRACT Backbone‐cyclic peptides (BMPs) are an attractive class of molecules appeared in diverse natural bioactive products. However, mRNA display technology coupled with ribosomal synthesis is intrinsically inapplicable
Koki Shinbara, Ekishin Yanagi, Ayaka Aizawa, Takayuki Katoh, Hiroaki Suga   +4 more
wiley   +2 more sources

Availability of Charged tRNAs Drives Maximal Protein Synthesis at Intermediate Levels of Codon Usage Bias. [PDF]

Bull Math Biol
Hill AM, To K, Wilke CO.
europepmc   +1 more source

Alternative Translation Initiation in PRKN Delays the Onset of Parkinson's Disease and Offers a Therapeutic Target

Annals of Neurology, EarlyView.
Objective Biallelic variants in PRKN cause autosomal recessive Parkinson's disease (PD) with a median age at onset of 31 years. When evaluating the 16 previously published carriers of a homozygous deletion of Exon 2 from the International Parkinson's Disease and Movement Disorder Society Gene Database (MDSGene) database, the median age at onset is ...
Arian Hach, Katja Lohmann, Manabu Funayama, Poornima J. Menon, Eva‐Juliane Vollstedt, Teresa Kleinz, Hiroyo Yoshino, Suzanne Lesage, Britta Meier, Carolyn M. Sue, Jean‐Christophe Corvol, Alexis Brice, Nobutaka Hattori, Christine Klein, Aleksandar Rakovic   +14 more
wiley   +1 more source

Comprehensive analysis of chloroplast genome evolution in Poaceae: codon usage patterns, selection pressures, and phylogenomic relationships. [PDF]

BMC Genomics
Geng X, Xue Y, Wang H, Tu H, Jing R, Li Z, Gai Y.   +6 more
europepmc   +1 more source