Cargando…

Growth and Neurodevelopmental Disorder with Arthrogryposis, Microcephaly and Structural Brain Anomalies Caused by Bi-allelic Partial Deletion of SMPD4 gene

Neutral sphingomyelinases have an important role in generation of ceramide and phosphorylcholine from sphingomyelins which then act as secondary messengers in various signaling pathways of the cellular machinery. They function ubiquitously with a predominant role in the central nervous system. Neutr...

Descripción completa

Detalles Bibliográficos
Autores principales:	Bijarnia-Mahay, Sunita, Somashekar, Puneeth H, Kaur, Parneet, Kulshreshtha, Samarth, Ramprasad, Vedam L, Murugan, Sakthivel, Sud, Seema, Shukla, Anju
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8930277/ https://www.ncbi.nlm.nih.gov/pubmed/34621002 http://dx.doi.org/10.1038/s10038-021-00981-3

Ejemplares similares

Case Report: Novel Biallelic Null Variants of SMPD4 Confirm Its Involvement in Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, and Structural Brain Anomalies
por: Ji, Weigang, et al.
Publicado: (2022)

NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results – a pilot study
por: Singh, Kanika, et al.
Publicado: (2020)

SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes
por: Smits, Daphne J, et al.
Publicado: (2023)

Proximity Ligation Mapping of Microcephaly Associated SMPD4 Shows Association with Components of the Nuclear Pore Membrane
por: Piët, Alexandra C. A., et al.
Publicado: (2022)

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly
por: Schnabel, Franziska, et al.
Publicado: (2023)

Prenatal presentation of a rare genetic disorder: a clinical, autopsy and molecular correlation
por: Arora, Veronica, et al.
Publicado: (2019)

Tyrosine hydroxylase deficiency—Clinical insights and a novel deletion in TH gene in an Indian patient
por: Bijarnia‐Mahay, Sunita, et al.
Publicado: (2020)

Immunodeficiency, Motor Delay, and Hypouricemia Caused by a Novel Mutation of Purine Nucleoside Phosphorylase Gene in an Indian Infant
por: Shah, Nikit, et al.
Publicado: (2019)

The Mitotic Apparatus and Kinetochores in Microcephaly and Neurodevelopmental Diseases
por: Degrassi, Francesca, et al.
Publicado: (2019)

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies
por: Iqbal, Maria, et al.
Publicado: (2021)

Identification of a case of SRD5A3-congenital disorder of glycosylation (CDG1Q) by exome sequencing
por: Gupta, Neerja, et al.
Publicado: (2018)

Case Series of Creatine Deficiency Syndrome due to Guanidinoacetate Methyltransferase Deficiency
por: Narayan, Vinu, et al.
Publicado: (2020)

Diprosopus, craniorachischisis, arthrogryposis, and other associated anomalies in a stillborn lamb
por: Kaçar, Cihan, et al.
Publicado: (2008)

Distal Arthrogryposis and Lethal Congenital Contracture Syndrome – An Overview
por: Desai, Darshini, et al.
Publicado: (2020)

LMNB1 Duplication-Mediated Autosomal Dominant Adult-Onset Leukodystrophy in an Indian Family
por: Bijarnia-Mahay, Sunita, et al.
Publicado: (2021)

Challenges in Chronic Genetic Disorders: Lessons From the COVID-19 Pandemic
por: Pal, Swasti, et al.
Publicado: (2021)

De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly
por: Ye, Yizhou, et al.
Publicado: (2015)

Alternative Splicing of SMPD1 in Human Sepsis
por: Kramer, Marcel, et al.
Publicado: (2015)

A Rare Case of Mosaic 3pter and 5pter Deletion-Duplication with Autism Spectrum Disorder and Dyskinesia
por: Bajracharya, Luna, et al.
Publicado: (2023)

The hip in arthrogryposis
por: Bradish, Christopher
Publicado: (2015)

A novel splice variant in EMC1 is associated with cerebellar atrophy, visual impairment, psychomotor retardation with epilepsy
por: Geetha, Thenral S., et al.
Publicado: (2017)

Mutation–Proved Clouston Syndrome in a Large Indian Family with a Variant Phenotype
por: Khatter, Sangeeta, et al.
Publicado: (2019)

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment
por: Zollo, Massimo, et al.
Publicado: (2017)

Distal arthrogryposis syndrome
por: Kulkarni, K. P., et al.
Publicado: (2008)

Management of the knees in arthrogryposis
por: Pontén, Eva
Publicado: (2015)

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications
por: Rosenhahn, Erik, et al.
Publicado: (2022)

Analysis of Denver Neurodevelopmental Screening Test Results of Myelomeningocele, Hydrocephalus, and Microcephaly Patients
por: Alatas, Ibrahim, et al.
Publicado: (2018)

Hypertonia, Microcephaly and Hyperkalaemia in a Neonate: Coexistence of Neurodevelopmental Disorder and Adrenal Insufficiency
por: Rajendran, Usha Devi, et al.
Publicado: (2022)

SMPD1 gene variants in patients with β-Thalassemia major
por: Dursun, Fadime Ersoy, et al.
Publicado: (2023)

Case report: The spectrum of SMPD1 pathogenic variants in Hungary
por: Molnar, Maria Judit, et al.
Publicado: (2023)

Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies in a consanguineous Iranian family is associated with a homozygous start loss variant in the PRUNE1 gene
por: Gholizadeh, Mehdi Agha, et al.
Publicado: (2022)

Prevalence of mutations in inherited retinal diseases: A comparison between the United States and India
por: Yohe, Sophia, et al.
Publicado: (2019)

Bi‐allelic loss of ERGIC1 causes relatively mild arthrogryposis
por: Marconi, Caterina, et al.
Publicado: (2021)

Arthrogryposis multiplex congenita—an update
por: Møller-Madsen, Bjarne
Publicado: (2015)

AMC: amyoplasia and distal arthrogryposis
por: Kimber, Eva
Publicado: (2015)

Problems with the upper limb in arthrogryposis
por: Lester, Ruth
Publicado: (2015)

Integrative systems biology characterizes immune-mediated neurodevelopmental changes in murine Zika virus microcephaly
por: Fujimura, Kimino, et al.
Publicado: (2023)

Diagnostic yield and novel candidate genes for neurodevelopmental disorders by exome sequencing in an unselected cohort with microcephaly
por: Wang, Chunli, et al.
Publicado: (2023)

Arthrogryposis multiplex congenita: An anesthetic challenge
por: Pujari, Vinayak Seenappa, et al.
Publicado: (2012)

Congenital Dislocation of the Knee: Idiopathic or Arthrogryposis?
por: Barreto Mota, Ricardo, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_0oefdfr0olhj0re7o7pcb5u639