Search Results - "Motahareh Sheikh-Hosseini"
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Brown adipose tissue transplantation as a novel alternative to obesity treatment: a systematic review
Published in International Journal of Obesity (01-01-2021)“…Background Obesity, a global challenge, is a complex disorder linked to various diseases. Different kinds of treatments are currently used to treat or control…”
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Retinitis pigmentosa‐1 due to an RP1 mutation in a consanguineous Iranian family: Report of a novel mutation
Published in Clinical case reports (01-03-2024)“…Key Clinical Message The identification of a novel RP1 gene mutation highlights the importance of precise variant identification for retinitis pigmentosa…”
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3
Beneficial effects of cold atmospheric plasma on inflammatory phase of diabetic foot ulcers; a randomized clinical trial
Published in Journal of diabetes and metabolic disorders (01-12-2020)“…Purpose The healing process is impaired in diabetic wounds like the other types of chronic wounds. Cytokines, and growth factors are valuable candidates for…”
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Identification and characterization of NMNAT1 gene mutations in an Iranian patient with Leber congenital amaurosis 9
Published in Clinical case reports (01-10-2024)“…Key Clinical Message The discovery of compound heterozygous NMNAT1 mutations (c.245T>C; p.Val82Ala and c.575A>G; p.Asp192Gly) provides a genetic explanation…”
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Association of Autism Spectrum Disorder in an Iranian Pedigree with a Novel Hereditary Mutation in SETD5
Published in International journal of biomedicine (01-03-2024)“…Autism spectrum disorder has evolved from a rare childhood-onset disorder to a widely acknowledged, extensively researched, and heterogeneous lifelong…”
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Cellular Dust as a Novel Hope for Regenerative Cancer Medicine
Published in Advances in experimental medicine and biology (2020)“…Although stem cells have the most therapeutic potential, the advantages of regenerative medicine may be best provided using extracellular vesicles which also…”
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Usher Syndrome Type 2 in An Iranian Family: A Novel Founder Variation in The USH2A Gene
Published in Cell journal (Yakhteh) (11-08-2024)“…This study delves into Usher syndrome type 2 (USH2), an uncommon genetic disorder characterized by sensorineural hearing loss (HL) and retinitis pigmentosa…”
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A Novel Disease-Causing ASPA Gene Mutation (c.432+1 G>C) in an Iranian Patient with Canavan Disease: A Case Report
Published in International journal of biomedicine (01-12-2021)“…Canavan disease is an autosomal recessive genetic disease and rare fatal childhood neurological disorder caused by mutations in the ASPA gene, which resulted…”
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Joubert syndrome caused by a TMEM67 mutation: Genotype-phenotype analysis
Published in Neurology Asia (01-06-2024)“…Joubert syndrome (JS), a rare neurodevelopmental disorder, is characterized by a unique midbrain- hindbrain malformation known as the molar tooth sign, a…”
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A Novel SLC9A6 Mutation Associated with Christianson Syndrome in a Non-Consanguineous Iranian Family: A Case Report
Published in International journal of biomedicine (01-09-2024)“…Introduction: Christianson syndrome is a neurological disorder characterized by recurrent seizures resulting from abnormal brain neuron discharge. Primarily…”
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A novel heterozygous TPM2 gene mutation in an Iranian family affected by distal arthrogryposis type 1: a case report
Published in Egyptian Journal of Medical Human Genetics (05-03-2022)“…Background Distal arthrogryposis (DA) is a group of clinically and genetically heterogeneous disorders characterized by congenital contractures of the distal…”
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Unveiling a Novel THOC2 Mutation's Role in X-linked Intellectual Disability
Published in International journal of biomedicine (01-06-2024)“…Background: Intellectual disabilities encompass a spectrum of neurodevelopmental disorders profoundly impacting an individual's cognitive abilities, adaptive…”
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13
Clinical and genetic analysis of Niemann-Pick disease type C with a novel NPC1 variant
Published in Journal of rare diseases (Berlin, Germany) (08-07-2024)“…Background Niemann-Pick disease type C poses a significant challenge within the landscape of rare genetic disorders, marked by its connection to variants in…”
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Homozygous LOXHD1 Nonsense Mutation (c.1787G>A; p.W596X) is Associated with Hearing Loss in an Iranian Family: A Case Report
Published in International journal of biomedicine (01-03-2022)“…Hereditary hearing loss is the most common sensory neural disorder, which has been revealed to have high genetic heterogeneity. Herein, we aimed to figure out…”
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15
A-Kinase anchor protein 4 (AKAP4) may be considered as a potential early diagnostic breast cancer marker detectable in blood
Published in Gene reports (01-12-2022)“…Breast cancer is the most common type of cancer-related death in women worldwide. Early diagnosis via cancer screening biomarkers has a major impact on…”
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16
Gene Therapy as an Emerging Therapeutic Approach to Breast Cancer: New Developments and Challenges
Published in Human gene therapy (01-11-2021)“…Breast cancer is a heterogeneous disease, which is the consequence of several genetic and environmental factors. Also, it is one of the most common causes of…”
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17
Mesenchymal stem cells’ seeded amniotic membrane as a tissue-engineered dressing for wound healing
Published in Drug delivery and translational research (01-03-2022)“…Different biomaterials have been used as biological dressing for wound regeneration. For many decades, human amniotic membrane graft (AM) has been widely…”
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Birjand longitudinal aging study (BLAS): the objectives, study protocol and design (wave I: baseline data gathering)
Published in Journal of diabetes and metabolic disorders (01-06-2020)“…Objectives The pace of population aging is growing rapidly around the world. Aging is associated with the emergence of different health status including…”
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19
Birjand longitudinal aging study
Published in Journal of diabetes and metabolic disorders (05-03-2020)“…Objectives The pace of population aging is growing rapidly around the world. Aging is associated with the emergence of different health status including…”
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20
Retinitis pigmentosa-1 due to an RP1 mutation in a consanguineous Iranian family: Report of a novel mutation
Published in Clinical case reports (01-03-2024)“…Key Clinical MessageThe identification of a novel RP1 gene mutation highlights the importance of precise variant identification for retinitis pigmentosa…”
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