Results 211 to 220 of about 645,067 (303)

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad, Emily Waskow, Hari Tunuguntla, Joseph Spinner, Hanna J. Tadros, Lisa T. Emrick, Daniel G. Calame, Fernando Scaglia   +7 more
wiley   +1 more source

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

Effect of strengths-based, tiered, accessible resources and supports (STARS) for Kids project, a codesigned hybrid service delivery framework to identify and support child development, parent mental health and psychosocial needs among parents and carers of children aged 6 months to 3 years: a randomised controlled trial protocol. [PDF]

BMJ Open
John JR, Kohlhoff J, Lambiase S, Nicholls S, Diez M, Doyle KE, Barr K, Boydell K, Brennan C, Carson T, Lam-Cassettari C, Cole J, Dadich A, Descallar J, Finlay-Jones A, Foster M, Goldfeld S, Grace R, Hodgins M, Honisett S, Katsamangos B, Katz I, Kemp L, Khan F, Kliendienst L, Lawson K, Lingam R, McClean T, Morton SMB, O'Loughlin G, Ostojic K, Page A, Prescott S, Raman S, Schmied V, Walker AK, Wallace A, Young R, Silva D, Downs J, Woolfenden S, Eapen V, Ngarra Wakulda Aboriginal Community Consultation Group, STARS for Kids Research Group.   +43 more
europepmc   +1 more source

The Role of Glutamatergic and Dopaminergic Genes in Resistant Schizophrenia: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Psychosis is a heterogeneous disorder, with approximately one‐third of patients experiencing treatment resistance, predominantly among individuals diagnosed with Schizophrenia. Treatment‐resistant schizophrenia (TRS) may stem from a distinct biological signature, involving abnormalities in the dopaminergic and glutamatergic systems.
Maria Teresa Moreno‐Calle, Silvia Iñiguez‐Barrio, Maria Aurora Arrue, Leire Erkoreka   +3 more
wiley   +1 more source

Using cognitive interviews with children to test the content validity of a paediatric patient reported experience measure. [PDF]

BMJ Paediatr Open
Barr KR, Fortunati E, Studniberg Z, Nikolovski J, White L, Elliott S, McCartney L, Smith-McCue D, Noah M, Swaminathan G, John JR, Treadgold C, Hall A, Dadich A, Vernon B, Toscano E, Hiscock H, Chow J, Johnston L, Whitehead L, Foster M, Sung V, Eapen V.   +22 more
europepmc   +1 more source

Maternal Factors Modifying the Link Between Genetic Risk for Autism and Developmental Milestones

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Although common genetic liability—quantified through polygenic risk scores (PRS)—accounts for substantial variance in autism spectrum disorder (ASD) liability, how prenatal environmental exposures interact with genetic predisposition to shape developmental outcomes remains poorly understood. Using the data from Autism Genetic Resource Exchange
Liliana D'Alesio, Vishani Nimish Patel, McKenna Walsh, Erick Messias, Ping‐I Lin   +4 more
wiley   +1 more source

Describing and monitoring quality in value-based palliative and end-of-life care at a population level in Wales: achievements and future direction. [PDF]

BMJ Support Palliat Care
Woolley KE, Puntoni S, Withers K, Cox S, Baker I, Byrne A.   +5 more
europepmc   +1 more source

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

Participatory Policy Development: Reflections on Designing the Strong Roots for Our Futures Program in Victoria

Australian Journal of Social Issues, EarlyView.
ABSTRACT In this paper, we trace the journey to create the Strong Roots for our Futures Program, a government program to resource and support Traditional Owners to undertake a range of activities in areas where no state recognition existed. We provide a background to state recognition in Victoria before considering the program design, leading to an ...
Nell Reidy, Bhiamie Williamson, Jesse Williams   +2 more
wiley   +1 more source

Neurodevelopmental Conditions Amongst Care-Experienced Children: A Population-Based Cohort Study Using Linked Health, Social Care, and Education Records from Wales. [PDF]

Int J Popul Data Sci
Hodges H, Bailey GA, Cowley LE, Thompson S, Griffiths LJ.   +4 more
europepmc   +1 more source