Results 311 to 320 of about 15,248,084 (403)

<i>OsMYBR1</i>, a 1R-MYB Family Transcription Factor Regulates Starch Biosynthesis in Rice Endosperm. [PDF]

Life (Basel)
Huang K, Chen L, Jiao G, Ruan Z, Li X, Tang S, Hu P, Wei X.   +7 more
europepmc   +1 more source

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source

Role of circadian transcription factor REV-ERB in cardiovascular diseases: a review. [PDF]

Front Cardiovasc Med
Wang C, Yang J, Yuan J, Wang X, Li Q, Ren C, Zhi X, Lv X, Liu K, Zhao X, Li Y.   +10 more
europepmc   +1 more source

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero, Christina Freeman, Ruchi Shah, Renkui Bai, Hong Cui, Marian Castro, Zachary Myers, Eric Choy, Derek Chan, Molly Easter, Sophia Y. Zhao, Madeline Babros, Ruchi Garg, Matthew Deardorff, Franklin Moser, Tyler Mark Pierson   +15 more
wiley   +1 more source

Transcription factor networks disproportionately enrich for heritability of blood cell phenotypes. [PDF]

Science
Martin-Rufino JD, Caulier A, Lee S, Castano N, King E, Joubran S, Jones M, Goldman SR, Arora UP, Wahlster L, Lander ES, Sankaran VG.   +11 more
europepmc   +1 more source

A PANoptosis‐Based Signature for Survival and Immune Predication in Glioblastoma Multiforme

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PANoptosis is a concept of total cell death characterized by pyroptosis, apoptosis, and necroptosis. We aimed to explore the clinical significance of PANoptosis‐related genes (PARGs) in glioblastoma multiforme (GBM). Methods Expression profiles of GBM were downloaded from the XENA database as a training dataset to construct a ...
Jun Yang, Da Lin, Dongyuan Liu, Dongxu Zhang, Hao Wang   +4 more
wiley   +1 more source

Structural basis of human Mediator recruitment by the phosphorylated transcription factor Elk-1. [PDF]

Nat Commun
Monté D, Lens Z, Dewitte F, Fislage M, Aumercier M, Verger A, Villeret V.   +6 more
europepmc   +1 more source

Glycosylation Gene Signatures as Prognostic Biomarkers in Glioblastoma

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Glioblastoma (GBM) is an aggressive brain tumor characterized by significant heterogeneity. This study investigates the role of glycosylation‐related genes in GBM subtyping, prognosis, and response to therapy. Methods We analyzed mRNA expression data and clinical information from The Cancer Genome Atlas (TCGA) and Gene Expression ...
Tong Zhao, Hongliang Ge, Chenchao Lin, Xiyue Wu, Jianwu Chen   +4 more
wiley   +1 more source

Transcription factor clusters as information transfer agents. [PDF]

Sci Adv
Munshi R, Ling J, Ryabichko S, Wieschaus EF, Gregor T.   +4 more
europepmc   +1 more source

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas, Cristina Domínguez‐González, Daniel Natera‐de Benito, Solange Kapetanovic, Aurelio Hernández‐Laín, Berta Estévez‐Arias, Laura Llansó, Carlos Ortez, Cristina Jou, Itxaso Martí‐Carrera, Arístides López‐Márquez, Maria José Rodríguez, Laura González‐Mera, Velina Nedkova, Roberto Fernández‐Torrón, Benjamín Rodríguez‐Santiago, Cecília Jimenez‐Mallebrera, Raul Juntas‐Morales, Adolfo López‐de Munain, Jordi Surrallés, Andrés Nascimento, Eduard Gallardo, Montse Olivé, Pia Gallano, Lidia González‐Quereda   +24 more
wiley   +1 more source