Results 71 to 80 of about 50,370 (253)

circZNF148 Drives Glucose Metabolism Reprogramming to Enhance Metastasis and Immune Evasion via HK1 Stabilization in Triple‐Negative Breast Cancer

Advanced Science, EarlyView.
CircZNF148 stabilizes HK1 through deubiquitinase recruitment, thereby enhancing glycolysis and lactate production. Elevated lactate promotes PD‑L1 lactylation and membrane accumulation while suppressing CD8+ T‐cell cytotoxicity, collectively facilitating immune evasion and malignant progression in TNBC.
Yuhan Jin, Wenjing Zhao, Lei Wang, Jianing Wang, Keying Zhao, Dan Luo, Yifei Wang, Yuxia Yang, Jingze Yang, Yaming Li, Tong Chen, Dianwen Han, Zekun Wang, Xiaoyan Li, Bing Chen, Lijuan Wang, Yiran Liang, Qifeng Yang   +17 more
wiley   +1 more source

The Landscape of Long Non‐Coding RNAs Provides Insights Into the Domestication and Improvement of Pear Fruit

Advanced Science, EarlyView.
This study reveals that long non‐coding RNAs represent important regulatory components underlying pear domestication and improvement. Integrative multi‐omics analyses identify selected lncRNAs associated with fruit traits, while functional validation uncovers a lignin‐related lncRNA, lncRNA‐pys, that promotes lignin accumulation.
Bobo Song, Peilin Han, Jiaming Li, Xiaolong Li, Xiang Zhang, Jing Fan, Dongliang Liu, Jianfa Cai, Lingchao Zhang, Jun Wu   +9 more
wiley   +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

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

Characterization and Analysis of PHEX Variants in Patients With Hypophosphatemia in Argentina

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Confirming the underlying molecular etiology of hereditary hypophosphatemia (HH) to provide recurrence risk counseling is highly important. Our aims were to describe the detected variants and their distribution across Argentina and to contrast them with published data.
Silvia Ávila, Sara Fernández, Maximiliano Zeballos, María Georgina Poggio   +3 more
wiley   +1 more source

Genetic Variation in ADHD‐Related Risk Genes in an Indigenous Population of the Amazon

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Attention‐Deficit/Hyperactivity Disorder (ADHD) is a highly heritable neurodevelopmental disorder; however, its genetic architecture remains poorly explored in Indigenous populations. This study aimed to analyze and characterize genetic variation in 11 genes (ADGRL3, CDH8, DCC, DUSP6, FOXP1, FOXP2, MEF2C, PCDH7, SEMA6D, SORCS3, and ST3GAL3 ...
Hirlesson Paixão de Matos, Natasha Monte, Kaio Evandro Cardoso Aguiar, Rita de Cássia Calderaro, Aline Pasquini Santos, Juliana Carla Gomes Rodrigues, André Maurício Ribeiro‐Dos‐Santos, Sandro José De Souza, Ândrea Ribeiro‐Dos‐Santos, João Farias Guerreiro, Sidney Emanuel Batista Dos Santos, Ney Pereira Carneiro Dos Santos   +11 more
wiley   +1 more source

Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation

HGG Advances
Summary: We report two rare homozygous variants, including a recurrent missense and intronic variant, in the EIF3K gene in four unrelated individuals with global developmental delay, microcephaly, proportionate short stature, dysmorphic craniofacial ...
Bobbi McGivern, Tess Holling, Maria J. Guillen Sacoto, Hákon Gudbjartsson, Ibrahim M. Abdelrazek, Malik Alawi, Yan Bai, Olaf Bodamer, Amy Crunk, Amy E. Dameron, Lisa M. Dyer, Lindsay B. Henderson, Mira Irons, Kerstin Kutsche, Caroline McGowan, Kristin G. Monaghan, Kaitlyn O’Connor, Asma Rashid, Olivia L. Redlich, Adi Reich, Christopher Simotas, Sara Welner, Ingrid M. Wentzensen   +22 more
doaj   +1 more source

Female‐Specific Risk of TAS2R Variants in Chronic Rhinosinusitis: A Hospital‐Based Cohort Study From the Taiwan Precision Medicine Initiative

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Bitter taste receptors (T2Rs) function in the innate immune defense of the sinonasal mucosa; however, the genetic association between the TAS2R gene family and chronic rhinosinusitis (CRS) remains understudied in Asian populations.
Rong‐San Jiang, Man‐Wei Hua, I‐Chieh Chen, Yi‐Ming Chen, Shun‐Hung Lin, Kuan‐Yu Lai, Yi‐Chen Chen   +6 more
wiley   +1 more source

Intron Variant Cause DICER1 Syndrome With Pleuropulmonary Blastoma

Human Mutation
DICER1 syndrome (OMIM 601200) is a rare autosomal dominant familial tumor susceptibility disorder with heterozygous DICER1 germline mutations. The most common tumor in clinical practice is pleuropulmonary blastoma. Pleuropulmonary blastoma is a rare pediatric lung tumor that begins during fetal lung development and is part of an inherited tumor ...
Rujin Tian, Yixiao Li, Lin Zhong, Haozheng Zhang, Zhongtao Gai, Dong Wang, Li Song, Kaihui Zhang   +7 more
openaire   +2 more sources

Novel variant alters splicing of TGFB2 in family with features of Loeys-Dietz syndrome

Frontiers in Genetics
Loeys-Dietz syndrome (LDS) is a connective tissue disorder representing a wide spectrum of phenotypes, ranging from isolated thoracic aortic aneurysm or dissection to a more severe syndromic presentation with multisystemic involvement.
Emily R. Gordon, Stephanie A. Felker, Stephanie A. Felker, Tanner F. Coleman, Tanner F. Coleman, Nadiya Sosonkina, Jada Pugh, Jada Pugh, Meagan E. Cochran, Meagan E. Cochran, Anna C. E. Hurst, Sara J. Cooper   +11 more
doaj   +1 more source