Search results

end-joining factor 1 (NHEJ1), also known as Cernunnos or XRCC4-like factor (XLF), is a protein that in humans is encoded by the NHEJ1 gene. XLF was originally...

of NHEJ1 deficiency, it was shown that NHEJ1 has an important role in promoting survival of the primitive hematopoietic progenitors. These NHEJ1 deficient...

anomaly is an autosomal recessive condition caused by a mutation in the NHEJ1 gene that affects Collies and related breeds. Smooth Collies can compete...

autosomal recessive condition caused by an autosomal recessive mutation in the NHEJ1 gene that affects Collies and related breeds, such as the Border Collie...

protein 4 (XRCC4), DNA ligase IV, non-homologous end-joining factor 1 (NHEJ1; also known as Cernunnos or XRCC4-like factor [XLF]), the recently discovered...

anomaly is an autosomal recessive condition caused by a mutation in the NHEJ1 gene that affects Collies and related breeds. Herding dogs of collie type...

P08138 10516 NGLY1 HGNC:17646 Q96IV0 10517 NGRN HGNC:18077 Q9NPE2 10518 NHEJ1 HGNC:25737 Q9H9Q4 10519 NHERF1 HGNC:11075 O14745 10520 NHERF2 HGNC:11076...

immunodeficiency characterized by microcephaly, due to mutations in the NHEJ1 gene, it is inherited via autosomal recessive manner Management for this...

Digweed M, Varon R (2010). "Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype" (PDF)...

recessive trait that has a penetrance reaching 100 percent. A mutation in the NHEJ1 gene is responsible. The most common sign of CEA is the presence of an area...

Kenji Ichiyanagi, Yoichi Matsuda (2020). Combined deletions of IHH and NHEJ1 cause chondrodystrophy and embryonic lethality in the Creeper chicken. Communications...

microcephaly, growth retardation, and sensitivity to ionizing radiation; 611291; NHEJ1 Severe combined immunodeficiency, Athabascan type; 602450; DCLRE1C Severe...