Results 191 to 200 of about 41,932 (299)

Delayed Recognition of Maternal G6PD Heterozygous Status Across Prenatal and Newborn Care Interfaces

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is the most common red blood cell enzymatic disorder worldwide. Although many heterozygotes are asymptomatic, affected neonates have an increased risk for hyperbilirubinemia and related complications.
Mona M. Makhamreh, Ramiah R. Vickers, Cheryl Mensah, Wanda Dosal, Jennifer R. McKinney, April D. Adams   +5 more
wiley   +1 more source

Research note: Generation of ovalbumin-null chickens and characterization of altered protein compositions in their egg whites. [PDF]

Poult Sci
Park JS, Kim YM, Lee HJ, Han JY.
europepmc   +1 more source

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source

Regulatory structural variations upstream of a NAC transcription factor control fruit maturity timing in peach. [PDF]

J Exp Bot
Tagliabue AG, Friel J, Chiozzotto R, Baccichet I, da Silva Linge C, Calastri E, Biffi G, Zaracho N, Gattolin S, Micali S, Eduardo I, Bassi D, Rossini L, Cirilli M.   +13 more
europepmc   +1 more source

First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Paternal isodisomy of chromosome 15 (iUPD15) is a recognized cause of Angelman syndrome (AS), accounting for approximately 2%–5% of cases. Additionally, another recognized consequence of iUPD is the unmasking of autosomal recessive disorders. However, reports of recessive disorders resulting from iUPD15 remain scarce in the literature.
Gabriela Roldão Correia‐Costa, Joana Rosa Marques Prota, Antonia Paula Marques‐de‐Faria, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

Effect of the genetic merit for backfat thickness on the meat quality of steers. [PDF]

Trop Anim Health Prod
de Araújo TLAC, Feijó GLD, de Nadai Bonin Gomes M, Pereira ES, de Oliveira Menezes GR, Nogueira É, de Oliveira LOF, Neves AP, Ferreira JR, Latta KI, Vieira DG, da Costa Gomes R.   +11 more
europepmc   +1 more source

Developing a strain‐dependent susceptibility to hepatocellular carcinoma in a murine model based on histopathological evidence and genetic context

Animal Models and Experimental Medicine, EarlyView.
Using F1 (C57BL/6J/Smad4+/− X CC) mice, we found that partial loss of Smad4 promotes liver carcinogenesis in a strain‐dependent manner, highlighting the importance of genetic modifiers in tumor susceptibility. The use of Collaborative Cross mice provides a valuable platform for uncovering genotype‐specific cancer susceptibilities in preclinical ...
Osayd Zohud, Aysar Nashef, Imad Abu‐Elnaaj, Fuad A. Iraqi   +3 more
wiley   +1 more source

Climate-Resilient F₃ Progenies of <i>Coffea arabica</i>: Agronomic Traits and Antibiosis to <i>Hypothenemus hampei</i>. [PDF]

Plants (Basel)
Molina D, Flórez-Ramos CP, Montoya EC, Medina R, Benavides P.   +4 more
europepmc   +1 more source

Cortical Thickness and White Matter Surface Morphology in Tourette Syndrome: A Cohort Study

Annals of Neurology, EarlyView.
Objective To examine cortical thickness and white matter surface morphology in a large sample of individuals with Tourette syndrome (TS) and neurotypical controls across the lifespan, and to assess associations with symptom severity, comorbidities, and medication use.
Sahar Delavari, Adam C. Frank, Ravi Bansal, Flora M. Vaccarino, Robert A. King, Paul Lombroso, Lawrence Scahill, James F. Leckman, Bradley S. Peterson   +8 more
wiley   +1 more source

Genetic Improvement of grass pea (Lathyrus sativus L.) through gamma-ray-induced mutagenesis: evaluation of M₄ progenies for yield, agronomic traits, and low ODAP content. [PDF]

Sci Rep
Madke VS, Manwar RM, Nandeshwar BC, Ali UM.   +3 more
europepmc   +1 more source