Results 151 to 160 of about 189,964 (332)

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

RNA helicase SACY-1 is required for longevity caused by various genetic perturbations in Caenorhabditis elegans

, 2016
Mihwa Seo, Sang‐Soon Park, Hong Gil Nam, Seung‐Jae Lee   +3 more
openalex   +1 more source

Structural Basis for Targeting of Human RNA Helicase DDX3 by Poxvirus Protein K7 [PDF]

, 2009
Shun-ichiro Oda, Martina Schröder, Amir R. Khan   +2 more
openalex   +1 more source

Expanding Phenotype of GINS1 Deficiency: A Case Report and Review of the Literature

Clinical Genetics, EarlyView.
The authors present a novel case and review of individuals with GINS1 deficiency, causing severe growth restriction and combined immunodeficiency. Only the ninth case of this ultrarare disorder, it highlights the role of these variants in disease, glaucoma as a feature, and the possibility of immunodeficiency without infections in affected individuals.
Michael P. Mackley, Rae Brager, Hannah Geddie, Vicky Breakey, Rebecca Hough, Dimitrios J. Stavropoulos, Vanda McNiven   +6 more
wiley   +1 more source

Apoptosis induced by replication inhibitors in Chk1-depleted cells is dependent upon the helicase cofactor Cdc45 [PDF]

, 2008
René Rodrı́guez, Mary E. Gagou, M Meuth   +2 more
openalex   +1 more source

Multicentric Asynchronous Endocrine Mucin‐Producing Sweat Gland Carcinoma and Mucinous Carcinoma of the Skin

Journal of Cutaneous Pathology, EarlyView.
ABSTRACT Endocrine mucin‐producing sweat gland carcinoma (EMPSGC) is an adnexal neoplasm which typically occurs on periorbital skin and demonstrates overlapping histopathologic features with primary mucinous carcinoma of the skin (MCS). Herein, we report a patient who developed five distinct lesions of EMPSGC and MCS over an eight‐year period, some of ...
Ikuko Hirai, Joseph F. Sobanko, Tara C. Mitchell, Jacquelyn Roth, Rosalie Elenitsas, Emily Y. Chu   +5 more
wiley   +1 more source

Corrigendum: The Cellular Functions and Molecular Mechanisms of G-Quadruplex Unwinding Helicases in Humans

Frontiers in Molecular Biosciences, 2022
Yang Liu, Yang Liu, Yang Liu, Yang Liu, Xinting Zhu, Kejia Wang, Kejia Wang, Kejia Wang, Bo Zhang, Shuyi Qiu, Shuyi Qiu, Shuyi Qiu   +11 more
doaj   +1 more source

The Helicase Has1p Is Required for snoRNA Release from Pre-rRNA

, 2006
Xue‐hai Liang, Maurille J. Fournier
openalex   +2 more sources

Regulation of UvrD Helicase Activity by MutL [PDF]

, 2018
Yerdos Ordabayev, Binh Nguyen, Anita Niedziela‐Majka, Timothy M. Lohman   +3 more
openalex   +1 more source

SARS‐CoV‐2 nucleocapsid protein variants have differential RNA chaperone activity

The FEBS Journal, EarlyView.
The SARS‐CoV‐2 nucleocapsid (N) protein facilitates RNA annealing through its RBD–IDR2–CTD region, identifying it as a functional RNA chaperone. The Omicron BA.5 variant shows reduced chaperone activity compared to the Wuhan wild‐type protein. Although phosphorylation has no effect on wild‐type N, phosphomimetic modification of BA.5 N restores its RNA ...
Sabrina Babl, Julia M. Seidel, Fabian Kugler, Elisabeth Silberhorn, Anna Ludwig, Jonas Abel, Sophia Winklbauer, Niklas Schaub, Silvia Materna‐Reichelt, Kamran Honarnejad, Nataša Stojanović Gužvić, Gernot Längst   +11 more
wiley   +1 more source