Publications by authors named "Najumuddin"

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Sequence variants in the BTD underlying biotinidase deficiency in families of Pakistani origin.
Tariq Moatter, Sibtain Ahmed, Hafsa Majid, Lena Jafri, Muhammad Bilal, Najumuddin

J Gene Med· January 2024

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Metabolism configures immune response across multi-systems: Lessons from COVID-19.
Tinku Gupta, Najumuddin, Dhanya Rajendran, Akash Gujral, Ashok Jangra

Adv Biol Regul· December 2023

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Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly.
Muhammad Bilal, Hammal Khan, Muhammad Javed Khan, Tobias B Haack, Rebecca Buchert, Najumuddin

Eur J Hum Genet· November 2023

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Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families.
Qaiser Zaman, Aiman Iftikhar, Gauhar Rehman, Qadeem Khan, Najumuddin

J Gene Med· October 2023

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Whole exome sequencing identified five novel variants in , , , and leading to epilepsy in consanguineous families.
Angham Abdulrhman Abdulkareem, Qaiser Zaman, Hamza Khan, Sabar Khan, Gauhar Rehman, Najumuddin

Front Genet· June 2023

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Case report: A novel loss of function variant in the DNA-binding domain of TBX2 causes severe osteochondrodysplasia.
Misbahuddin M Rafeeq, Hussam Aly Sayed Murad, Najumuddin, Samee Ullah, Zaheer Ahmed

Front Genet· January 2023

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Novel Variants in , and Cause Charcot-Marie-Tooth and Spastic Ataxia of Charlevoix-Saguenay Type Diseases.
Qaiser Zaman, Muhammad Abbas Khan, Kalsoom Sahar, Gauhar Rehman, Hamza Khan, Najumuddin

Genes (Basel)· January 2023

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Structural basis of Klotho binding to VEGFR2 and TRPC1 and repurposing calcium channel blockers as TRPC1 antagonists for the treatment of age-related cardiac hypertrophy.
Muhammad Fakhar, Najumuddin, Sana Zahid, Sajid Rashid

Arch Biochem Biophys· April 2022

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Evidence for NAD-dependent histone dynamics and tunneling associated conformational transitions in circadian deacetylase SIRT1.
Najumuddin, Muhammad Fakhar, Sajid Rashid

J Mol Graph Model· September 2020

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Phosphorylation-dependent activity-based conformational changes in P21-activated kinase family members and screening of novel ATP competitive inhibitors.
Mehreen Gul, Muhammad Fakhar, Najumuddin, Sajid Rashid

PLoS One· March 2020

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Antagonistic role of Klotho-derived peptides dynamics in the pancreatic cancer treatment through obstructing WNT-1 and Frizzled binding.
Muhammad Fakhar, Najumuddin, Mehreen Gul, Sajid Rashid

Biophys Chem· September 2018

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Interactive structural analysis of βTrCP1 and PER2 phosphoswitch binding through dynamics simulation assay.
Najumuddin, Muhammad Fakhar, Mehreen Gul, Sajid Rashid

Arch Biochem Biophys· August 2018

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