Results 191 to 200 of about 239,426 (300)

Management Strategies for Disappearing Colorectal Liver Metastases After Systemic Chemotherapy: Long‐Term Outcomes and Preoperative Prediction of ‘True Complete Response’

open access: yesAnnals of Gastroenterological Surgery, EarlyView.
ABSTRACT Background Determining whether to resect disappearing liver metastases (DLMs) after chemotherapy for colorectal liver metastases (CRLMs) remains challenging. Methods Patients who underwent hepatectomy after systemic chemotherapy for initially unresectable CRLMs were reviewed. True complete response (CR) was defined as either resected DLMs with
Taihei Soma   +9 more
wiley   +1 more source

Dissecting Pirtobrutinib Resistance in Mantle Cell Lymphoma Through Single‐Cell Multi‐Omics

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Pirtobrutinib (PBN), a non‐covalent BTK inhibitor, has been approved by the FDA for relapsed/refractory mantle cell lymphoma (MCL); however, resistance to PBN has been observed. To dissect the molecular dynamics driving PBN resistance, we performed integrative single‐cell multi‐omic profiling (scRNA‐seq, scATAC‐seq, and scDNA‐seq) on ...
Fangfang Yan   +10 more
wiley   +1 more source

Genetic Abnormalities and Clinical Management of Fetal Genitourinary System Anomalies in Eastern China

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To investigate the correlation between genetic abnormalities and fetal genitourinary (GU) anomalies in Eastern China and to provide assistance for the clinical management of fetuses with different types of GU anomalies. Five hundred forty‐five fetuses with GU anomalies were enrolled, undergoing karyotyping, copy number variation sequencing ...
Jie Liang   +6 more
wiley   +1 more source

Pan-cancer inference and validation of hypermorphic, hypomorphic and neomorphic mutations. [PDF]

open access: yesNat Genet
Tagore S   +6 more
europepmc   +1 more source

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman   +15 more
wiley   +1 more source

Silencing HPV: the rise of RNA therapeutics in cervical cancer. [PDF]

open access: yesInfect Agent Cancer
Khorramabadi SM   +4 more
europepmc   +1 more source

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

open access: yesAmerican 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   +10 more
wiley   +1 more source

Home - About - Disclaimer - Privacy