Skip to main content

8 Result(s)

within Ranad Shaheen Remove this filter Metabolic Diseases Remove this filter

and

  1. No Access

    Article

    PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly

    Pseudouridylation is the most common post-transcriptional modification, wherein uridine is isomerized into 5-ribosyluracil (pseudouridine, Ψ). The resulting increase in base stacking and creation of additional...

    Ranad Shaheen, Monika Tasak, Sateesh Maddirevula, Ghada M. H. Abdel-Salam… in Human Genetics (2019)

  2. No Access

    Article

    Homozygous KCNMA1 mutation as a cause of cerebellar atrophy, developmental delay and seizures

    Dominant gain-of-function mutations of the KCNMA1 gene, encoding the pore-forming subunit of the large conductance voltage- and Ca2+-activated K+ channel, have been described in a few patients with the syndrome o...

    Brahim Tabarki, Nabil AlMajhad, Amal AlHashem, Ranad Shaheen… in Human Genetics (2016)

  3. No Access

    Article

    Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans

    Primary microcephaly is a clinical phenotype in which the head circumference is significantly reduced at birth due to abnormal brain development, primarily at the cortical level. Despite the marked genetic het...

    Ranad Shaheen, Amal Hashem, Ghada M. H. Abdel-Salam, Fatima Al-Fadhli… in Human Genetics (2016)

  4. No Access

    Article

    A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition

    Intellectual disability is a common and highly heterogeneous disorder etiologically. In a multiplex consanguineous family, we applied autozygosity map** and exome sequencing and identified a novel homozygous...

    Ranad Shaheen, Lu Han, Eissa Faqeih, Nour Ewida, Eman Alobeid… in Human Genetics (2016)

  5. No Access

    Article

    On the phenotypic spectrum of serine biosynthesis defects

    L-serine is a non-essential amino acid that is de novo synthesized via the enzymes phosphoglycerate dehydrogenase (PGDH), phosphoserine aminotransferase (PSAT), and phosphoserine phosphatase (PSP). Besides its ro...

    Ayman W. El-Hattab, Ranad Shaheen… in Journal of Inherited Metabolic Disease (2016)

  6. No Access

    Article

    Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue

    Ehlers–Danlos syndrome (EDS) describes a group of clinical entities in which the connective tissue, primarily that of the skin, joint and vessels, is abnormal, although the resulting clinical manifestations ca...

    Anas M. Alazami, Sarah M. Al-Qattan, Eissa Faqeih, Amal Alhashem… in Human Genetics (2016)

  7. No Access

    Article

    T (brachyury) is linked to a Mendelian form of neural tube defects in humans

    Ranad Shaheen, Essam Alshail, Ahmed Alaqeel, Shinu Ansari, Farah Hindieh… in Human Genetics (2015)

  8. No Access

    Article

    Revisiting disease genes based on whole-exome sequencing in consanguineous populations

    Assigning a causal role for genes in disease states is one of the most significant medical applications of human genetics research. The requirement for at least two different pathogenic alleles in the same gen...

    Ahmed Shamia, Ranad Shaheen, Nouran Sabbagh, Agaadir Almoisheer… in Human Genetics (2015)