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The LIM homeobox gene Lhx9 is essential for mouse gonad formation
It is shown that transcripts of the LIM homeobox gene Lhx9 are present in urogenital ridges of mice at embryonic day 9.5; later they localize to the interstitial region as morphological differentiation occurs, indicating that LHX9 mutations may underlie certain forms of isolated gonadal agenesis in humans.
PLA2G6 mutation underlies infantile neuroaxonal dystrophy.
Findings highlight a role of phospholipase in neurodegenerative disorders and identify an underlying mutation common to both affected families in PLA2G6, the gene encoding phospholIPase A2 group VI (cytosolic, calcium-independent).
Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway.
A defect in the phosphatidylinositol pathway leading to a decrease in synthesis of PIP(2), a molecule active in endocytosis of synaptic vesicle proteins, culminates in lethal congenital arthrogryposis.
Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9.
Vaccination against autoimmune mouse diabetes with a T-cell epitope of the human 65-kDa heat shock protein.
- D. Elias, T. Reshef, O. Birk, R. van der Zee, M. Walker, I. Cohen
- Biology, MedicineProceedings of the National Academy of Sciences…
- 15 April 1991
T-cell vaccination and specific peptide therapy are feasible in spontaneous autoimmune diabetes and administration of the peptide itself to NOD mice can also down-regulate immunity to the 65-kDa heat shock protein and prevent the development of diabetes.
Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1
- B. Markus, G. Narkis, D. Landau, R. Birk, Idan Cohen, O. Birk
- Biology, MedicineHuman mutation
- 1 October 2012
It is shown that a recessive mutation abrogating all functional domains in the same gene leads toAutosomal recessive lethal congenital contractural syndrome.
Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy.
Coding exons function as tissue-specific enhancers of nearby genes.
It is demonstrated that DNA sequences can have a dual function, operating as coding exons in one tissue and enhancers of nearby gene(s) in another tissue, suggesting that phenotypes resulting from coding mutations could be caused not only by protein alteration but also by disrupting the regulation of another gene.
NOD mouse diabetes: the ubiquitous mouse hsp60 is a beta-cell target antigen of autoimmune T cells.
It is reported that NOD spleen cells and an NOD diabetogenic T cell clone C9 responded to the recombinant mouse hsp60 and to its peptide M-p277 to the same extent as to H-hSp60 and H-p 277, which raises the question of how a non-tissue specific molecule may be a target of a tissue-specific autoimmune disease.
Hsp60 Peptide Therapy of NOD Mouse Diabetes Induces a Th2 Cytokine Burst and Downregulates Autoimmunity to Various β-Cell Antigens
Effective peptide treatment of the diabetogenic process associated with the induction of antibodies may be explained by selective and transient activation of Th2 autoimmune reactivity.