2024
Clinical and genetic investigation of 14 families with various forms of short stature syndromes
Khan F, Khan H, Ullah K, Nawaz S, Abdullah, Khan M, Ahmed S, Ilyas M, Ali A, Ullah I, Sohail A, Hussain S, Ahmad F, Faisal, Sufyan R, Hayat A, Hanif T, Bibi F, Hayat M, Ullah R, Khan I, Ali R, Hasni M, Ali H, Bilal M, Peralta S, Buchert R, Zehri Z, Hassan G, Liaqat K, Zahid M, Shah K, Mikitie O, Haack T, Ji W, Lakhani S, Ansar M, Ahmad W. Clinical and genetic investigation of 14 families with various forms of short stature syndromes. Clinical Genetics 2024, 106: 347-353. PMID: 38774940, DOI: 10.1111/cge.14550.Peer-Reviewed Original ResearchSyndromic forms of short statureFamilies of Pakistani originDisease-causing gene variantsSyndromic formsWhole-exome sequencingSequence variantsHomozygosity mappingIdentified genesExome sequencingAutosomal dominant mannerSanger sequencingXRCC4 geneMutation spectrumGenetic etiologyGenetic investigationsLethal defectShort statureGene variantsGenesDominant mannerReduced growthShort stature syndromeHeterogeneous group of disordersSequenceGroup of disorders
2019
Absence of XRCC4 and its paralogs in human cells reveal differences in outcomes for DNA repair and V(D)J recombination
Ruis B, Molan A, Takasugi T, Hendrickson E. Absence of XRCC4 and its paralogs in human cells reveal differences in outcomes for DNA repair and V(D)J recombination. DNA Repair 2019, 85: 102738. PMID: 31731258, PMCID: PMC6952554, DOI: 10.1016/j.dnarep.2019.102738.Peer-Reviewed Original ResearchConceptsXRCC4-like factorDNA repairC-NHEJDSB repairHuman cellsNon-Homologous End Joining (NHEJ) pathwayDNA DSB repairHuman somatic cellsDNA damaging agentsInfluences DNA repairRepair of DNASpecies-specific differencesCell linesDsb proteinsHigher eukaryotesAccessory factorsParalogsSomatic cellsGenomic instabilityXRCC4 geneDamaging agentsEssential functionsSame cell linePAXXHCT116 cells
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