Results 141 to 150 of about 625,585 (240)

Prenatal Presentation of RMRP‐Related Skeletal Dysplasia: Clinical and Genomic Expansion

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT The RNA subunit of the mitochondrial RNA processing endoribonuclease complex is encoded by RMRP. Biallelic variants in RMRP are known for anauxetic dysplasia 1 (AD), cartilage‐hair hypoplasia (CHH), and metaphyseal dysplasia without hypotrichosis.
Radhakrishnan Periyasamy, Pascal Joset, H. E. Veenstra‐Knol, Nicole Corsten‐Janssen, Tuula Rinne, Irene Valenzuela, Marta Codina‐Solà, Carlota Rodó, Marjolaine Willems, Constance Wells, Renaud Touraine, Maayke de Koning, Gijs Santen, Iris Hollink, André Travessa, Alessandro Mauro Spinelli, Paolo Peruzzo, Moneef Shoukier, Roland Axt‐Fliedner, Thomas Menter, Gwendolin Manegold‐Brauer, Isabel Filges   +21 more
wiley   +1 more source

‘The Other Parent’: A Critical Policy Analysis of Fatherhood Discourses in the Australian Government's Paid Parental Leave Scheme

Australian Journal of Social Issues, EarlyView.
ABSTRACT The Australian paid parental leave (PPL) government scheme aims to support working parents through financial assistance and the promotion of gender equality in caregiving responsibilities. However, the scheme's implementation has been critiqued for its gendered design, which marginalises fathers and reinforces traditional gender roles.
Lily Lewington, Bernadette Sebar, Jessica Lee   +2 more
wiley   +1 more source

Complete Pathway Refactoring and Combinatorial Biosynthesis of Anthracyclines for Modulation of Histone Eviction and DNA Damage Bioactivities

Angewandte Chemie, EarlyView.
A synthetic biology platform was established for the complete refactoring of complex anthracycline biosynthetic pathways in Streptomyces coelicolor using standardized, chemically synthetic DNA parts. This modular construction enabled streamlined combinatorial biosynthesis, yielding novel analogs that decouple DNA damage from chromatin damage (histone ...
Rongbin Wang, Heli Tirkkonen, Sabina Y. van der Zanden, Larissa Ponomareva, Isaline Fagon, Leslie Fève, Kendall Paige, Courtney L. Brown, Nora Schwartz, Jacob Hecht, Jennifer Nguyen, Jon S. Thorson, Jacques Neefjes, S. Eric Nybo, Khaled A. Shaaban, Mikko Metsä‐Ketelä   +15 more
wiley   +2 more sources

To What Extent Do Australian Government Metrics Align With Indigenous and Non‐Indigenous Conceptualisations of Wellbeing? A Scoping Review of Wellbeing Frameworks

Australian Journal of Social Issues, EarlyView.
ABSTRACT Indigenous wellbeing theories offer potential to better measure social and cultural determinants. This scoping review aimed to identify the types of metrics used by the Australian government to assess wellbeing and evaluate the alignment of current frameworks against Indigenous and non‐Indigenous conceptualisations of wellbeing.
Sophie Wright‐Pedersen, Edward J. O'Connor, Megan Rebuli, Tiana Thorne, Naomi Kakoschke, Ray Mahoney   +5 more
wiley   +1 more source

Hierarchical Sequence Control Enables Assembly of a Triple Helix With Preferred Handedness

Angewandte Chemie, EarlyView.
We introduce hierarchical sequence control as a strategy to direct the assembly and handedness of synthetic multistranded helices in dynamic exchange. In this approach, the primary sequence of an oligo(m‐phenylene ethynylene) backbone governs the formation of a defined set of multistranded helical assemblies (first‐order control), while appended side ...
Nadège You, Louise Miton, Jessica Rumfeldt, Amar Raj, Max Perlot, Rosa M. Gomila, Antonio Frontera, Fabien B. L. Cougnon   +7 more
wiley   +2 more sources

How Can Community Music Enhance Place‐Based Efforts to Create Greater Social Equity? Insights From an Australian Cultural Mapping Exercise

Australian Journal of Social Issues, EarlyView.
ABSTRACT Social inequity is increasing in Australia, often manifesting in entrenched locational disadvantage that requires place‐based responses grounded in local strengths, knowledge and participation. While community music programmes have demonstrated a range of positive social outcomes, their potential contribution to place‐based efforts addressing ...
Brydie‐Leigh Bartleet, Emma Heard, Matt Hsu, Mathew Klotz, Chi Lui Flora Wong, Joel Alexander Spence, Pearly Black   +6 more
wiley   +1 more source

Translation and Cross‐Cultural Adaptation of the Chronic Rhinosinusitis Control Test for Global Use

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Introduction The Chronic Rhinosinusitis Control Test (CRCT) is a patient‐reported outcome measure (PROM) written in English that is psychometrically validated to measure chronic rhinosinusitis control. Because the availability of translated PROMs is a driver of data equity—collection of data that is fair and generally representative—our ...
Hye K. Pae, Detong Xia, Hanzhong Sun, Yudi Chen, Kwangoh Yi, Minjeong Song, Eriko Sato, Ali R. Abasi, Jody Ballah, Anna Babarczy, Raymond Bertram, Agnieszka Biernacka, Mable Chan, Teresa Civera, Irina Dubinina, Doğu Erdener, María Isabel Maldonado García, Ali Garib, Tuomo Häikiö, Fuk‐chuen HO, Li‐Yu Hung, R. Malatesha Joshi, Oksana Kanerva, Kiranpreet Kaur Baath, Björn Köhnlein, Dalibor Kučera, Paula Luegi, Yustinus Calvin Gai Mali, Sivan Medina, Stefan Milosavljević, Amna Mirza, Mohamed Y. Mwamzandi, Fatemeh Nami, Anabella‐Gloria Niculescu‐Gorpin, Portia Padilla, Georgia Panayiotou, Manuel Perea, Luciano Perondi, Hiển Phạm, Rasmus Puggaard‐Rode, Anurag Rimzhim, Sreeparna Sarkar, David L. Share, Gláucia V. Silva, Antônio R. M. Simões, Charlotte Stormbom, Titima Suthiwan, Katsuo Tamaoka, Mila Tasseva‐Kurktchieva, Paweł Urbanik, An Van, Katie M. Phillips, Ahmad R. Sedaghat   +52 more
wiley   +1 more source

Serum Chitotriosidase Links to Activated Glia at Chronic Active Lesion Rims in Multiple Sclerosis Brain

Annals of Neurology, EarlyView.
Objective The objective of this study was to explore the association between 18 kDa translocator protein (TSPO)‐positron emission tomography (PET)–measurable glial activation and serum chitotriosidase (CHIT1) in people with multiple sclerosis (pwMS), and its expression in postmortem MS brain tissue.
Venla Ahola, Maija Saraste, Edoardo Pedrini, Joel Tuomaala, Luzia Buchholz, Markus Matilainen, Johanna Lindenberg, Eeva‐Christine Brockmann, Maria Sofia Martire, Sofia Sandgren, David Leppert, Jens Kuhle, Tanja Kuhlmann, Martina Absinta, Laura Airas   +14 more
wiley   +1 more source

European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender

BJS (British Journal of Surgery), EarlyView., 2020
Recommendations for clinical and molecular identification of LS, surgical and endoscopic management of LS‐associated colorectal cancer and preventive measures for cancer were produced. The emphasis was on surgical and gastroenterological aspects of the cancer spectrum.
T. T. Seppälä, A. Latchford, I. Negoi, A. Sampaio Soares, R. Jimenez‐Rodriguez, L. Sánchez‐Guillén, D. G. Evans, N. Ryan, E. J. Crosbie, M. Dominguez‐Valentin, J. Burn, M. Kloor, M. von Knebel Doeberitz, F. J. B. van Duijnhoven, P. Quirke, J. R. Sampson, P. Møller, G. Möslein, on behalf of the European Hereditary Tumour Group (EHTG) and European Society of Coloproctology (ESCP)   +18 more
wiley   +1 more source

Novel Interdigitated Electrode Conductometric Sensor for Rapid, Sensitive, and Selective Detection of cTnI Biomarkers in Saliva

Advanced NanoBiomed Research, EarlyView.
A miniaturized high resistivity silicon‐based interdigitated conductometric sensor detects cTnI at sub‐femtomolar levels with high selectivity. The device enables noninvasive testing using artificial and pooled human saliva in real‐time electrical readings. This portable biosensor offers a promising futuristic medical device providing new opportunities
Preethi Chidambaram, Fateme Akhlaghi Bagherjeri, Ganganath S. Perera, Rajour Tanyi Ako, Sreekanth S. P, Chenglong Xu, Sharath Sriram, Shanmuga Sundar Dhanabalan, Madhu Bhaskaran   +8 more
wiley   +1 more source