Results 51 to 60 of about 25,347 (189)

The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of Miller syndrome by reporting novel features including preaxial defects, facial nevus simplex, and optic atrophy. It also includes the first patients with homozygous DHODH variants, emphasizing the importance of early diagnosis and the variability of presentations, from severe prenatal to mild adult phenotypes.
Marion Aubert Mucca, Perrine Brunelle, Martine Doco Fenzy, Clémence Vanlerberghe, Anne Dieux, Laura Feyereisen, Florence Jobic, Laurence Lode, Gwenael Le Guyader, Florence Petit, Elise Schaefer, Khaoula Zaafrane‐Khachnaoui, Alban Ziegler, Olivier Patat   +13 more
wiley   +1 more source

White–Sutton Syndrome: Insight of an Italian Cohort of 19 Subjects

Clinical Genetics, EarlyView.
New insights into White–Sutton syndrome with a collection of 19 Italian patients. Due to its complexity, we stress the importance of a systematic evaluation following the diagnosis and a thoughtful management of patients. Preliminary genotype–phenotype correlation analysis suggests the association between disruptive splicing variants and more severe ...
Anna Facchini, Maria Pina Concas, Stefania Zampieri, Iris Scala, Claudio Graziano, Anna Maria Innoceta, Marina Trivisano, Angela De Dominicis, Gabriele Trimarchi, Livia Garavelli, Margherita Baldassarri, Ilaria De Maggio, Francesca Mari, Donatella Greco, Paolo Gasparini   +14 more
wiley   +1 more source

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes

Clinical Genetics, EarlyView.
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari, Jade Charbonneau, Valancy Miranda, Khadijé Jizi, Marie‐Ange Delrue, Patricia Egerszegi, Isabelle Thiffault, Philippe M. Campeau   +7 more
wiley   +1 more source

Role of Histone Deacetylase and Inhibitors in Cardiovascular Diseases

Cell Proliferation, EarlyView.
HDACs play an important role in the occurrence and development of cardiovascular diseases, such as myocardial hypertrophy, hypertension, and atherosclerosis. HDAC inhibitors have broad prospects for the treatment of CVD, and different HDAC subtypes can act through different mechanisms.
Li‐Ying Zhang, Yue‐Yue Wang, Ri Wen, Tie‐Ning Zhang, Ni Yang   +4 more
wiley   +1 more source

Collagen XV preserves heart function and protects from pathological remodelling after myocardial infarction

The FEBS Journal, EarlyView.
The damage caused by myocardial infarction is exacerbated in the absence of collagen XV and leads to pathological remodelling and more severe left ventricle dysfunction (left panel) compared with the wild‐type littermates. These changes are accompanied by a wide‐ranging impact, including phenotypical (middle panel) and molecular (right panel) changes ...
Sanna‐Maria Karppinen, Miki Aho, Zoltan Szabo, Johanna Magga, Laura Vainio, Erhe Gao, Paul Janmey, Lauri Eklund, Karolina Rasi, Ilkka Miinalainen, Lynn Y. Sakai, Lasse Pakanen, Heikki Huikuri, Juhani Junttila, Risto Kerkelä, Taina Pihlajaniemi   +15 more
wiley   +1 more source

Migraine and patent foramen ovale: correlation, coexistence, dependence. A narrative review

Headache: The Journal of Head and Face Pain, EarlyView.
Plain Language Summary This review looked at what scientists know about the connection between migraine and a small heart opening called a patent foramen ovale (PFO). It showed that people with migraine, especially with aura, often have PFO, but it is not certain whether closing this heart opening helps prevent strokes in these patients.
Olga Grodzka, Michał Borończyk, Anna Zduńska, Julia Węgrzynek‐Gallina, Izabela Domitrz, Anetta Lasek‐Bal   +5 more
wiley   +1 more source

Associations Between Frailty, Family Functioning, and Quality of Life in Adolescents With Congenital Heart Disease: A Cross‐Sectional Study

Journal of Advanced Nursing, EarlyView.
ABSTRACT Aim To examine the relationship between frailty status, family functioning, and quality of life in adolescents with congenital heart disease (CHD). Background Frailty is a rarely assessed health outcome in adolescents. Despite advances in paediatric CHD treatment, potential complications may cause frailty, affecting family dynamics and quality
Chen‐Yan Huang, Ching‐I Chen, Hung‐Tao Chung, Chun‐Wei Lu, Ming‐Tai Lin, Jou‐Kou Wang, Chieh‐Yu Liu, Chi‐Wen Chen   +7 more
wiley   +1 more source

Cyclin‐dependent kinase 13 is indispensable for normal mouse heart development

Journal of Anatomy, Volume 246, Issue 4, Page 616-630, April 2025.
Congenital heart disease (CHD) is the most common defect in live births. The role of cyclin‐dependent kinase (CDK13) in cardiogenesis and CHD was studied using a transgenic mouse model (Cdk13tm1b) carrying deletion of exons 3 and 4, causing loss of function.
Qazi Waheed‐Ullah, Anna Wilsdon, Aseel Abbad, Sophie Rochette, Frances Bu'Lock, Asma Ali Saed, Marc‐Phillip Hitz, J. David Brook, Siobhan Loughna   +8 more
wiley   +1 more source

Grit in the Workplace Experienced by Taiwanese Adults With Congenital Heart Disease: A Phenomenological Study

Journal of Clinical Nursing, EarlyView.
ABSTRACT Aim To explore how adults with congenital heart disease (ACHD) experience and express grit in the workplace. Design Qualitative study using Husserl's descriptive phenomenology. Methods Between March 2022 and June 2023, semi‐structured interviews were administered to 18 ACHD recruited from two medical centre outpatient departments.
Yu‐Shiu Liu, Chun‐Wei Lu, Hung‐Tao Chung, Jou‐Kou Wang, Ying‐Mei Shu, Chi‐Wen Chen   +5 more
wiley   +1 more source

The Evolving Landscape of CHD Genetics: A Contemporary Guide to Genetic Testing and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Congenital heart disease (CHD) is the most common birth defect, affecting an estimated 9.4/1000 infants globally. The genetics of CHD is complex, with most cases thought to have multifactorial aetiology, implicating both genetic and environmental factors.
Bridget R. O'Malley, Gary F. Sholler, Janine Smith, Gillian M. Blue   +3 more
wiley   +1 more source