Results 121 to 130 of about 443,472 (266)

Depletion of oocyte dynamin-related protein 1 shows maternal-effect abnormalities in embryonic development. [PDF]

Sci Adv, 2022
Adhikari D, Lee IW, Al-Zubaidi U, Liu J, Zhang QH, Yuen WS, He L, Winstanley Y, Sesaki H, Mann JR, Robker RL, Carroll J.   +11 more
europepmc   +1 more source

Interactions between maternal provisioning and natural selection on seed mass fluctuate across heat waves

American Journal of Botany, EarlyView.
Abstract Premise Changing climates are leading to more frequent and severe heat waves, potentially threatening plant populations. Both acclimation to stress and selection for heat‐escape or heat‐resistance phenotypes occur during heat waves. However, plastic responses and selection do not necessarily interact cohesively—even producing trait responses ...
Lana F. Gaspard, Elissa Harb, Stacy D. Holt Jr., Courtney M. Patterson, Nicholas J. Kooyers   +4 more
wiley   +1 more source

Helping financially under‐resourced unmarried mothers move forward and flourish: Feasibility findings from an innovative coaching‐centered place‐based initiative

American Journal of Community Psychology, EarlyView.
Abstract Longer‐duration, holistic, cohort‐based, coach‐led interventions may be particularly effective in promoting both economic health and emotional well‐being among unmarried mothers living in economically disadvantaged neighborhoods. Aligning with the 1999 Centers for Disease Control (CDC) framework for program evaluation, this study presents a ...
Jennifer Langhinrichsen‐Rohling, Sharon Watson, Mia Ersoff, Jayla Worsley, Brice Kroll, Jenna Hollenhead   +5 more
wiley   +1 more source

A Maternal-Effect Toxin Affects Epithelial Differentiation and Tissue Mechanics in Caenorhabditis elegans. [PDF]

Front Cell Dev Biol, 2021
Lehmann C, Pohl C.
europepmc   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

Epilepsy risk in offspring of affected parents; a cohort study of the "maternal effect" in epilepsy. [PDF]

Ann Clin Transl Neurol, 2021
Dreier JW, Ellis CA, Berkovic SF, Cotsapas C, Ottman R, Christensen J.   +5 more
europepmc   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Maternal Effect Mutations: A Novel Cause for Human Reproductive Failure. [PDF]

Geburtshilfe Frauenheilkd, 2021
Eggermann T.
europepmc   +1 more source

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source