Results 81 to 90 of about 619,249 (293)

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Maternal Gatekeeping Scale for infancy period (0–24 months) adaptation into Turkish: Mother and Father Form

Frontiers in Psychology
This research aimed to adapt the Maternal Gatekeeping Scale into Turkish for use with infants and to evaluate its validity and reliability with parents. The study employed a descriptive survey model, a quantitative research approach.
Fatma Elif Ergin, Müberra Demirbaş
doaj   +1 more source

A Better Deal for Cohabiting Fathers? Union Status Differences in Father Involvement [PDF]

We use the package deal framework to study the trajectory of father involvement over time as a function of union status, while also examining reporting differences in father involvement by parent gender.
Alfred DeMaris, Lauren Rinelli McClain
core  

An Analysis of Father Involvement Practices in Early Childhood: Implications for Early Intervention Service Delivery [PDF]

, 2014
While research has shown the important role fathers play in young children’s lives, fathers are often not involved in Early Intervention services. This literature review will examine father involvement in early childhood programs in the United States ...
Peterson, Katherine A
core   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Increasing father involvement in child care: What do we know about effects on child development? [PDF]

, 2015
The time fathers spend and the activities they perform with children have risen continuously in most Western countries. Increasing father involvement in child care has also been an explicit policy objective with many European countries implementing ...
Schober, Pia S.
core  

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source

Father’s involvement associated with rural children’s depression and anxiety: A large-scale analysis based on data from seven provinces in China

Cambridge Prisms: Global Mental Health
To investigate the relationship between father involvement in parenting and mental health problems among children and adolescents in rural China. The Rural Children’s Mental Health dataset includes mental health information from 2,489 children and ...
Jian Jiang, Xuwei Tang, Zhifeng Lin, Yulan Lin, Zhijian Hu   +4 more
doaj   +1 more source

Identity Salience and Involvement among Resident and Nonresident Fathers [PDF]

The literature on father involvement suggests that the value men ascribe to the father role is important for understanding their involvement with their children, yet this theory has received only limited empirical attention.
Julia S. Goldberg
core  

Building a Framework for Sexual and Reproductive Health Care in the Rheumatology Context: Content and Approaches

Arthritis Care &Research, EarlyView.
People with systemic autoimmune and rheumatic diseases (SARDs) are at higher risk than the general population of experiencing adverse pregnancy and perinatal outcomes such as preeclampsia, intrauterine growth restriction, and maternal and/or fetal death.
Mehret Birru Talabi, Sonya Borrero
wiley   +1 more source