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MicroRNA-495 Modulates Neuronal Layer Fate Determination by Targeting .
Int J Biol Sci
December 2024
State Key Laboratory of Common Mechanism Research for Major Diseases, Department of Biochemistry & Molecular Biology, Medical Primate Research Center, Neuroscience Center, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing 100005, China.
During cortical development, the differentiation potential of neural progenitor cells (NPCs) is one of the most critical steps in normal cortical formation and function. Defects in this process can lead to many brain disorders. MicroRNA dysregulation in the dorsolateral prefrontal cortex is associated with risk for a variety of developmental and psychiatric conditions.
View Article and Find Full Text PDFBreathing Pattern Disorder: Introduction and Diagnostics.
Immunol Allergy Clin North Am
February 2025
Fundación Neumológica Colombiana, Carrera 13B No. 161 - 85, Bogotá, Colombia.
Breathing pattern disorder (BPD) refers to a heterogenous condition, which features altered normal respiratory functioning that cannot be fully attributed to organic causes at the current time. Characteristic symptoms of this condition include dyspnea, and irregular ventilation. The diagnosis of BPD is made utilizing a combination of patient-reported experiences in the form of validated questionnaires, direct observation by experienced clinicians, and objective testing in the form of cardiopulmonary exercise testing.
View Article and Find Full Text PDF[Clinical and genetic characteristics of children with Pitt-Hopkins syndrome caused by TCF4 gene variants].
Zhonghua Yi Xue Za Zhi
November 2024
The Central Laboratory of Birth Defects Prevention and Control, the Affiliated Women and Children's Hospital of Ningbo University, Ningbo315000, China.
The clinical data of children with Pitt-Hopkins syndrome (PTHS) who were treated in the Affiliated Women and Children's Hospital of Ningbo University from September 2022 to January 2024 were retrospectively included. The patients were followed up to June 2024, and their clinical and genetic characteristics were analyzed. A total of 4 children were included, 2 males and 2 females, with a diagnostic age [M (Q, Q)] of 22 (10, 32) months.
View Article and Find Full Text PDFA novel variant in the 3' UTR of the TCF4 gene likely causes Pitt-Hopkins syndrome: a case report.
Orphanet J Rare Dis
October 2024
Department of Rehabilitation, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Background: Pitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder that results from variants of TCF4 gene. PTHS follows an autosomal dominant inheritance pattern and the underlying pathological mechanisms of this disease are still unclear.
Methods: Whole-genome sequencing (WGS) was conducted to screen for potential pathogenic variant in a boy highly suspected of having a genetic disorder.
Exploring Kleefstra syndrome cohort phenotype characteristics: Prevalence insights from caregiver-reported outcomes.
Eur J Med Genet
December 2024
Department of Human Genetics, Radboud university medical center, Nijmegen, the Netherlands; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, the Netherlands.
Kleefstra syndrome (KLEFS1) is a rare genetic neurodevelopmental disorder affecting multiple body systems. It continues to be under-researched, and its prevalence remains unknown. This paper builds on the international KLEFS1 cohort of 172 individuals based on the caregiver-reported outcomes collected within the online data collection platform GenIDA and reports the occurrence, frequency and severity of symptoms in KLEFS1.
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