Results 231 to 240 of about 142,271 (283)

Lung organoids as a human system for Mycobacteria infection modeling and drug testing

The FEBS Journal, EarlyView.
Mycobacterial infections, including tuberculosis (TB) and infections by nontuberculous mycobacteria (NTM), are still public health issues. In 2023, TB caused 1.25 million deaths, while NTM remain a clinical challenge for patients with cystic fibrosis (CF).
Stephen Adonai Leon‐Icaza, Romain Vergé, Raoul Mazars, Laurence Berry, Céline Cougoule   +4 more
wiley   +1 more source

Comparative transcriptome and mutation analyses of the pancreatic islets of a rat model of obese type 2 diabetes identifies a frequently distributed nonsense mutation in the lipocalin 2 gene. [PDF]

DNA Res
Yokoi N, Adachi N, Hirokoji T, Nakano K, Yoshihara M, Shigenaka S, Urakawa R, Taniguchi Y, Yoshida Y, Yokose S, Suyama M, Okamura T.   +11 more
europepmc   +1 more source

Regulation of PHOX2B gene expression by the long non‐coding natural antisense RNA PHOX2B‐AS1

The FEBS Journal, EarlyView.
PHOX2B is a transcription factor essential for autonomic nervous system development. We identify and characterize PHOX2B‐AS1, a human long non‐coding antisense transcript at the PHOX2B locus, along with its murine counterpart. Our findings reveal bidirectional transcription and reciprocal regulation: PHOX2B activates PHOX2B‐AS1, whereas PHOX2B‐AS1 ...
Simona Di Lascio, Ana Lucia Cuadros Gamboa, Martina Bertocchi, Filippo Chiesa, Francesca Cargnin, Ettore Mosca, Paride Pelucchi, Viviana Tritto, Stefania Corti, Isabella Ceccherini, Paola Riva, Roberta Benfante, Diego Fornasari   +12 more
wiley   +1 more source

TSC2 nonsense mutation in angiomyolipoma with epithelial cysts: a case report and literature review. [PDF]

Front Oncol
Song H, Mao G, Jiao N, Li J, Gao W, Liu Y, Lu L.   +6 more
europepmc   +1 more source

RB1 inactivation in cutaneous carcinomas

Histopathology, EarlyView.
Among skin carcinomas, recurrent RB1 inactivation is observed in Merkel cell carcinoma, in a subset of squamous cell carcinoma with bowenoid morphology, in sebaceous carcinoma and in the recently described Wnt/beta‐catenin rosette‐forming carcinoma.
Tiffany Liv, Antoine Touzé, David Schrama, Serge Guyétant, Mahtab Samimi, Michael T Tetzlaff, Benjamin A Wood, Paul W Harms, Thibault Kervarrec   +8 more
wiley   +1 more source

A new nonsense mutation of PTCH1 gene in mother and daughter with late-onset nevus basal cell carcinoma syndrome: Case report. [PDF]

Medicine (Baltimore)
Li X, Ai L, Han CY, Cao YQ, Han JW.
europepmc   +1 more source

Papillary renal cell carcinoma, formerly known as Type 2: a single institutional study addressing histologic and molecular features

Histopathology, EarlyView.
Papillary renal cell carcinoma (pRCC) accounts for 15%–20% of RCC cases and is the second most common histologic subtype of RCC. In contrast to other common RCC subtypes, there continues to be ongoing debate about how to classify RCCs with papillary architecture and eosinophilic cytoplasm, given the heterogeneity of histologic, IHC and molecular ...
Melissa Yuwono Tjota, Jung Woo Kwon, Pankhuri Wanjari, Tatjana Antic   +3 more
wiley   +1 more source

ACMG/AMP‐Based Variant Classification of a Novel HBA2 Variant (HBA2: C.297del, Hb Taiping) in Compound Heterozygosity With Hb Adana (HBA2:C.179G>A) Causing Non‐Deletional Hb H Disease

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Background Accurate classification of novel globin gene variants is critical for the diagnosis and management of thalassaemia. The adaptation of ACMG/AMP guidelines for globin genes represents an important step toward standardising variant interpretation and enhancing clinical utility in the field.
Norafiza Mohd Yasin, Suguna Somasundram, Syahzuwan Hassan, Nur Aisyah Aziz, Faidatul Syazlin Abdul Hamid, Ezzanie Suffya Zulkefli, Nor Nazuha Mohamad, Chin Ming Lee, Mohd Nazif Darawi, Thessalia Papasavva, Coralea Stephanou, Petros Kountouris, Sandra J. G. Arkesteijn, Tamara Koopman, Cornelis L. Harteveld   +14 more
wiley   +1 more source

Correction: Nonsense mutation suppression is enhanced by targeting different stages of the protein synthesis process. [PDF]

PLoS Biol
Wittenstein A, Caspi M, Rippin I, Elroy-Stein O, Eldar-Finkelman H, Thoms S, Rosin-Arbesfeld R.   +6 more
europepmc   +1 more source