Results 181 to 190 of about 80,402 (303)

A theoretical study of the limits of the acidity of carbon acids in phase transfer catalysis in water and in liquid ammonia

Open Chemistry, 2013
Alkorta Ibon, Elguero José, Gallo Roger
doaj   +1 more source

<i>EML4::RET</i>, a novel transcript fusion in papillary thyroid cancer. [PDF]

JCEM Case Rep
Ciappuccini R, Leman R, Castera L, Dorbeau M, Le Hénaff V, Bardet S.   +5 more
europepmc   +1 more source

A Homozygous Frameshift Variant in KHDC4 Is Associated With a Syndromic Inherited Retinal Disease in Humans

Clinical Genetics, EarlyView.
We identified a homozygous frameshift variant in KHDC4 (c.1535_1538del: (p.Lys512Argfs*8) in a consanguineous family with syndromic Retinitis Pigmentosa. Functional characterization shows aberrant protein mislocalisation from nuclear speckles to a diffuse pattern.
Asodu Sandeep Sarma, Neta Barnoy, Prakadeeswari Gopalakrishnan, Keren Dichter, Rotem Mizrachi, Manar Salameh, Eyal Banin, Dror Sharon, Adi Inbal, Samer Khateb   +9 more
wiley   +1 more source

Phenotypes and clinical outcomes in children with moderate‐to‐severe atopic dermatitis across diverse ancestries: a Spanish multicenter observational study and cluster analysis (AD‐SKINS Project)

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Summary Background and Objectives Atopic dermatitis (AD) has a highly variable clinical phenotype and ancestry can contribute to this heterogeneity. This study aims to identify clinical phenotypes of AD in children from diverse ancestry groups, evaluate clinical outcomes and response to treatment, and define phenotypic clusters with potential relevance.
Eugeni Prat‐Colilles, Adrià Plana‐Pla, Asunción Vicente, Eulàlia Baselga, Helena Iznardo, Esther Roé, Miquel Casals‐Andreu, Maria Sin‐Soler, Josep A. Pujol‐Montcusí, Maria del Mar Cordellat‐Martínez, Xavier Soria‐Gili, Maria del Mar Tapias‐Terré, Marta Bertolin‐Colilla, Nidia Planella‐Fontanillas, Laura Marques‐Martín, Mónica Munera‐Campos, Maria Fabregat‐Pratdepadua, Carolina S. Prat‐Torres, Marta Ivars, Luisa F. Montenegro‐Morillo, Isabel Bielsa‐Marsol, Jose‐Manuel Carrascosa‐Carrillo   +21 more
wiley   +1 more source

Incidentally detected papillary thyroid carcinoma does not impair pregnancy outcomes during fertility treatment. [PDF]

J Endocr Soc
Hoshiyama A, Yamazaki H, Noh JY, Watanabe N, Suzuki N, Fukushita M, Matsumoto M, Yoshihara A, Matsuzu K, Sugino K, Ito K.   +10 more
europepmc   +1 more source

A novel deep intronic EIF2AK3 variant disrupts splicing and causes Wolcott–Rallison syndrome

Diabetic Medicine, EarlyView.
Abstract Aim Deep intronic variants can disrupt splicing and cause monogenic disease but are missed by routine genetic testing. This study assessed the contribution of deep intronic variants to Wolcott–Rallison syndrome (WRS), a recessive disorder characterized by early‐onset diabetes and progressive multisystem disease caused by loss‐of‐function ...
Alaa Al Assi, Georgia Bonfield, James Russ‐Silsby, Suhel Ahmed, Thomas W. Laver, Kadri Karaer, Bayram Özhan, Ayca Altincik, Kashyap A. Patel, Jayne A. L. Houghton, Sarah E. Flanagan, Matthew B. Johnson, Elisa De Franco   +12 more
wiley   +1 more source

The role of plectin as a druggable target in papillary thyroid carcinoma: therapeutic potential of troglitazone. [PDF]

Front Immunol
Lv YC, Zhou JH, Shi TF, Cui YF.
europepmc   +1 more source

Genetic dissection reveals distinct contributions of the eS31 N‐terminal domain to translational accuracy in Saccharomyces cerevisiae

The FEBS Journal, EarlyView.
The eukaryote‐specific N‐terminal domain (NTD) of eS31 uses two distinct strategies to maintain translation fidelity. During elongation, a positively charged “hotspot” fine‐tunes the selection of incoming aa‐tRNA. During termination, the entire NTD acts as a structural scaffold to ensure the correct positioning of the release factor eRF1.
Qingxuan Gao, Hiroshi Otsuka, Kei Endo, Koichi Ito   +3 more
wiley   +1 more source

The trimeric Shu complex in C. elegans is an ATPase that remodels RAD51 filaments in the homologous recombination‐associated DNA damage response

The FEBS Journal, EarlyView.
The C. elegans Shu complex (RFS‐1/RIP‐1/SWS‐1) is a DNA‐dependent ATPase that regulates RAD‐51 filaments during homologous recombination. The trimer preferentially binds 5′‐exposed DNA, remodels RAD‐51 filaments via ATP hydrolysis, and stabilizes filaments through ATP binding.
Sam Siu Hang Chu, Guangxin Xing, Kichang Paik, Anton Gartner, Hong Ling   +4 more
wiley   +1 more source

O14: Administration of eladocagene exuparvovec using the SmartFlow magnetic resonance-compatible ventricular cannula in pediatric patients with aromatic ʟ-amino acid decarboxylase deficiency

Genetics in Medicine Open
Alexis Krolick, Paul Hwu, Donald Gilbert, Bruria Ben-Zeev, Daniel Curry, Scellig Stone, Matthew Vestal, Christian Werner, Vinay Penematsa, Antonia Wang, Rezwanur Rahman, Lee Golden, Phillip Pearl   +12 more
doaj   +1 more source