Scientists identify new congenital neutropenia syndrome and causative gene mutation

...ntified another causative mutation in a subgroup of SCN patients: homozygous mutations (where the defect is present in both copies of the gene) in the hax1 gene. To conduct the current study, the researchers focused on five children of Turkish descent, four of whom were known to be related; the childre...

St. Jude Researchers Find Key Step in Programmed Cell Death

...ed by the Jak enzymes, the St. Jude team found the hax1 protein. "That was intriguing because several studies suggested that hax1 was controlled by cytokine signaling," Ihle said. ..., studies have suggested that if you overexpressed hax1 in cells, the cells were protected from undergoing...

St. Jude researchers find key step in programmed cell death

...ed by the Jak enzymes, the St. Jude team found the hax1 protein. That was intriguing because several studies suggested that hax1 was controlled by cytokine signaling, Ihle said. A..., studies have suggested that if you overexpressed hax1 in cells, the cells were protected from undergoing...

HAX1 in other areas

HAX1 - Wikipedia, the free encyclopedia

a b "Entrez Gene: HAX1 HCLS1 associated protein X-1" ... HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease) ...

HAX1 Gene - GeneCards | HAX1 Protein | HAX1 Antibody

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Blood -- Novel HAX1 mutations in patients with severe congenital ...

Homozygous mutations in HAX1 cause an autosomal recessive form of severe ... Therefore, our findings suggest that HAX1 isoforms may play a distinctive role ...

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: HAX1: : deficiency causes autosomal recessive severe congenital ...

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