Muhammad Ansar

Tricuspid Stenosis Due to Cardiac Sarcoma

Mirza M Baig, Muhammad Ansar

Primary cardiac sarcomas are rare, aggressive malignant tumors with high recurrence rates and poor prognosis.Their initial presentation is often vague, contributing to diagnostic delay and rapid clinical deterioration.We report the case of a 32-year-old man who presented with gastrointestinal symptoms and constitutional …

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Lipid transport is necessary for neocortical lamination

Jacqueline Chrast, Stephan C. Collins, Catherine Roger, Siwar Ben-Ayache et autres

ABSTRACT We previously described the Alkuraya-Kučinskas syndrome, a disorder associated with biallelic variants in BLTP1 (bridge-like lipid transfer protein), a.k.a. KIAA1109 . The majority of probands die perinatally with corpus callosum agenesis, ventriculomegaly and arthrogryposis. Homozygous ablation of mouse Bltp1 resulted in …

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Expanding the Genetic Landscape of Congenital Stationary Night Blindness Through the Analysis of Consanguineous Pakistani Families

Razia Parveen, Muhammad Iqbal, Shahbaz Khan, Abdur Rashid et autres

Background/Objectives: The current study was designed to identify the underlying genetic causes of congenital stationary night blindness (CSNB) in the indigenous consanguineous families from the Southern Punjab region of Pakistan, a population where the inherited retinal disorders are relatively common. Methods: A …

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Duplication of 4-bp in SACS leads to autosomal recessive spastic ataxia of Charlevoix–Saguenay type in two Pakistani patients

Saba Bibi, Asad Munir, Fawad Ali, Helen Nabiryo Frederiksen et autres

In this study, we present two patients from a Pakistani family affected by autosomal recessive spastic ataxia of Charlevoix-Saguenay, a rare neurodegenerative disorder. Exome sequencing identified a homozygous 4-bp duplication (NM_014363.6:c.12129_12132dup, p.Leu4045ArgfsTer8) in SACS correlating with disease in the affected family members.

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The mTOR-Dop1a-Agpat2 axis regulates nuclear phospholipid homeostasis

Hirotaka Ariyama, Atsushi Tsukamura, Satoko Miyatake, Satoko Okado et autres

The molecular mechanisms regulating the phospholipid (PL) metabolism in the nucleus remain to be elucidated. Here, we describe the role of Dop1a in controlling PL abundance in nuclear membranes (NMs) under the control of mTOR signaling. A shortage of lysophosphatidic acid (LPA) …

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A novel homozygous DST variant causes hereditary sensory and autonomic neuropathy in a Pakistani family

Asad Munir, Helen Nabiryo Frederiksen, Fawad Ali, Sabawoon Shah et autres

Hereditary sensory and autonomic neuropathy type 6 (HSAN-VI) is a rare autosomal recessive neurological disorder that affects fewer than 1 in 1,000,000 individuals worldwide and is characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired motor development and autonomic abnormalities with highly …

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Comparison of Kinesiology Taping and Instrument Assisted Soft Tissue Mobilization in Cervicogenic Headache: A Randomized Clinical Trial

Sana Javaid, Zainab Noor Qazi, Mahnoor Zia, Muhammad Ansar

1,2 Substantial contributions to the conception or design of the work for the acquisition, analysis or interpretation of data for the work, 2 Drafting the work or reviewing it critically for important intellectual content, 1-4 Final approval of the version to be …

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Lysosome-Dependent Sphingolipid Regulation as a potential therapeutic Target for Cohen Syndrome

Fabrizio Vacca, Renuka Prasad, Huda Barakullah, Romain Da Costa et autres

ABSTRACT Cohen Syndrome (CS) is a rare autosomal recessive disorder caused by biallelic mutations in the VPS13B gene, affecting approximately 50,000 individuals worldwide. Clinical features include postnatal microcephaly, developmental delay, intellectual disability, neutropenia, and retinal dystrophy. VPS13B belongs to the bridge-like lipid …

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ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy

Rhys Dore, A. Declève, Gloria Brunori, W.H. Ludlam et autres

PURPOSE: Synaptic communication deficits are central to many neurodevelopmental disorders. However, for rare monogenic conditions, these disorders remain poorly defined, with limited understanding of their molecular etiology. A homozygous frameshift variant in the synaptic cell adhesion molecule ELFN1 was reported in a …

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Genetic basis of patients with congenital gonadotropin deficiency

Yi Wang, Jing Zhai, Yassine Zouaghi, Imen Habibi et autres

Characterization of Human Anterior Neural Organoids as a Model for Investigating Cohen Syndrome

Renuka Prasad, Ju‐Hyun Lee, Da‐Yeon Lee, Yeonhee Lee et autres

ABSTRACT Neural organoids display three-dimensional (3D) structures that resemble in vivo neural architectures. Previously, we developed a novel two-dimensional (2D) neural induction-based protocol for culturing spinal cord organoids, enabling size control and recapitulating neural tube morphogenesis. In this study, we evaluated the …

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Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies

Francesca Mattioli, Rún Friðriksdóttir, Anne Hebert, Sissy Bassani et autres

BACKGROUND: Variants in genes encoding multiple subunits of the RNA Polymerase III complex which synthesizes rRNAs, tRNAs, and other small RNAs were previously associated with neurological disorders, such as syndromic hypomyelination leukodystrophies, pontocerebellar hypoplasia, and cerebellofaciodental syndrome. One new such candidate is …

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