Muhammad Nadeem Anjum

Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality

Francesca Magrinelli, Christelle Tesson, Plamena R. Angelova, Jose A. Rodriguez et autres

Dissecting biological pathways highlighted by Mendelian gene discovery has provided critical insights into the pathogenesis of Parkinson's disease (PD) and neurodegeneration. This approach ultimately catalyzes the identification of potential biomarkers and therapeutic targets. Here we identify PSMF1 as a gene implicated in …

gb, fr, us, hk, it, de, es, nl, tr, hr, il, pk, jo, sa, at (code pays fourni par la source)

A transposase-derived gene required for human brain development

Luz Jubierre Zapater, Sara A. Lewis, Rodrigo Lopez Gutierrez, Makiko Yamada et autres

Vertebrate brain development is associated with prominent neuronal cell death and DNA breaks, but their causes and functions are not well understood. DNA transposable elements could contribute to somatic genome rearrangements; however, their contributions to brain development are largely unknown. PiggyBac transposable …

us, ca, es, au, fr, tr, gb, pk, de, Tunisie (code pays fourni par la source)

Effect of water administrated probiotics on striped catfish (Pangasianodon hypophthalmus) exposed to sumithion

Md. Hafijur Rahman, Chowdhury Anika Tabassum Arpa, Salman Shahriar Nibir, Muhammad Nadeem Anjum et autres

Sumithion, a synthetic organophosphate, is commonly applied in aquaculture to eliminate tiger bugs before the stocking of fish larvae. However, its toxic effects often outweigh its intended benefits, posing significant risks to fish health. The present study investigated the capability of probiotics …

bd (code pays fourni par la source)

Clinical Spectrum of Primary Hypomagnesemia with Secondary Hypocalcemia due to TRPM6 Mutation

Sommayya Aftab, Muhammad Nadeem Anjum, Syed Saddam Hussain, Kashan Arshad et autres

INTRODUCTION: Hypomagnesemia type 1 (HOMG1) is a rare autosomal recessive condition due to TRPM6 gene mutation, leading to primarily impaired intestinal magnesium absorption resulting in secondary hypocalcemia. This study aimed to determine the clinical spectrum of hypomagnesemia with secondary hypocalcemia due to …

pk (code pays fourni par la source)

Association of Vimentin Expression in Tumor Cells with Demographic Parameters and TNM Staging of Oral Squamous Cell Carcinoma

Syeda Ferhana Akther, S M Tajdit Rahman, Kazi Nishat Ara Begum, Babak Bahar et autres

Background: The development of oral cancer has been associated with a number of risk factors. Thus, the search for novel molecular markers that can forecast the course of the malignancy and possible therapeutic targets is urgent. Vimentin has been found to be …

Pharmacological Management of Aggression in Dementia: Investigating the Role and Risks of Antipsychotics

Muhammad Nadeem Anjum, Manish Kumar, Aditya Kumar

Dementia is a progressive neurodegenerative disorder characterized not only by cognitive decline but also by a range of behavioural and psychological symptoms, among which aggression poses a significant clinical challenge. Aggression in dementia is associated with increased caregiver stress, patient morbidity, early …

in (code pays fourni par la source)

Clinical Diversity and Outcomes of Progressive Familial Intrahepatic Cholestasis Diagnosed by Whole Genome Sequencing in Pakistani Children

Huma Arshad Cheema, Aliaksandr Skrahin, Anjum Saeed, Zafar Fayyaz et autres

Progressive familial intrahepatic cholestasis (PFIC) is a rare group of genetic disorders that typically presents in infants and children, often progressing to end-stage liver disease. We used whole genome sequencing (WGS) for diagnosis to assess phenotypic features and outcomes in Pakistani children …

pk, de, ie (code pays fourni par la source)

Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases

Natalia Juliá‐Palacios, Gerard Muñoz‐Pujol, Reza Maroofian, Aida Maria Bertoli‐Avella et autres

Abstract Copper is indispensable for various metabolic processes, notably mitochondrial respiration. In humans, copper homeostasis hinges on transporters such as copper transporter 1 (CTR1), encoded by the SLC31A1 gene. Recently, bi-allelic mutations in SLC31A1 have been associated with a new neurodevelopmental disorder. …

es, gb, de, us, ir, pk, sa, Égypte (code pays fourni par la source)

Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder

Gabriel Aughey, Elisa Calì, Reza Maroofian, Maha Saad Zaki et autres

Retinoblastoma (RB) proteins are highly conserved transcriptional regulators that play important roles during development by regulating cell-cycle gene expression. RBL2 dysfunction has been linked to a severe neurodevelopmental disorder. However, to date, clinical features have been described in only six individuals carrying …

gb, Égypte, pk, fr, it, Maroc, re, tr, de, no, au, ir, kr, us (code pays fourni par la source)

Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism

Fatima Rahman, Luisa Marsili, Domizia Pasquetti, Abolfazl Rad et autres

Myogenic fusion, primarily regulated by the Myomaker and Myomixer proteins, is essential for skeletal muscle development, yet its mechanisms remain poorly understood. This study presents the clinical and molecular details of the third and fourth reported patients with biallelic variants in MYMX, …

pk, nl, fr, it, de, us, gb (code pays fourni par la source)

CLINICAL AND MOLECULAR CHARACTERISATION OF SLC31A1-RELATED NEURODEVELOPMENTAL DISORDER.

Natalia Juliá‐Palacios, Reza Maroofian, Aida Maria Bertoli‐Avella, Marta Gómez‐Chiari et autres

Copper is indispensable for various metabolic processes, notably mitochondrial respiration. In humans, copper homeostasis hinges on transporters such as copper transporter 1 (CTR1), encoded by the SLC31A1 gene. Recently, bi-allelic mutations in SLC31A1 have been associated with a new neurodevelopmental disorder. This …

es, gb, de, us, ir, pk, sa, Égypte (code pays fourni par la source)

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

Elisa Calì, Tania Quirin, Clarissa Rocca, Stéphanie Efthymiou et autres

PURPOSE: This study aims to comprehensively delineate the phenotypic spectrum of ACTL6B-related disorders, previously associated with both autosomal recessive and autosomal dominant neurodevelopmental disorders. Molecularly, the role of the nucleolar protein ACTL6B in contributing to the disease has remained unclear. METHODS: We …

gb, be, lu, it, kw, Égypte, us, fr, cz, in, iq, tr, ag, Maroc, nl, de, sa, pk, ir, fi, gr, ps, ru, br, il (code pays fourni par la source)