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A novel ubiquitin ligase is deficient in Fanconi anemia
Fanconi anemia is a recessively inherited disease characterized by congenital defects, bone marrow failure and cancer susceptibility. Cells from individuals with Fanconi anemia are highly sensitiveExpand
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A transgenic insertion upstream of Sox9 is associated with dominant XX sex reversal in the mouse
In most mammals, male development is triggered by the transient expression of the Y-chromosome gene, Sry, which initiates a cascade of gene interactions ultimately leading to the formation of aExpand
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Growth differentiating factor-9 mutations may be associated with premature ovarian failure.
OBJECTIVE To determine whether perturbations of the growth differentiating factor-9 (GDF9) gene are associated with premature ovarian failure (POF). DESIGN Mutational analysis of the GDF9 gene inExpand
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A deletion in the gene encoding sphingomyelin phosphodiesterase 3 (Smpd3) results in osteogenesis and dentinogenesis imperfecta in the mouse
The mouse mutation fragilitas ossium (fro) leads to a syndrome of severe osteogenesis and dentinogenesis imperfecta with no detectable collagen defect. Positional cloning of the locus identified aExpand
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A transgenic insertion causing cryptorchidism in mice
Summary: A distinctive feature of gonadal maturation in mammals is the movement to an extraabdominal location. Testicular descent is a complex, multistage process whereby the embryonic gonads migrateExpand
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Molecular cloning and sequence analysis of a mouse Y chromosome RNA transcript expressed in the testis.
Using a Y specific probe (pY353/B) taken from a flow sorted mouse Y chromosome library we have identified a family of RNA transcripts encoded by the Y chromosome. These transcripts which areExpand
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Mutations of the GREAT gene cause cryptorchidism.
In humans, failure of testicular descent (cryptorchidism) is one of the most frequent congenital malformations, affecting 1-3% of newborn boys. The clinical consequences of this abnormality areExpand
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A novel gene, Pog, is necessary for primordial germ cell proliferation in the mouse and underlies the germ cell deficient mutation, gcd.
Primordial germ cells (PGCs) are the precursor of the germ cells in adult gonads. They arise extra-gonadally and migrate through somatic tissues to the presumptive genital ridges, where theyExpand
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Homology of a candidate spermatogenic gene from the mouse Y chromosome to the ubiquitin-activating enzyme El
THE Sxr (sex-reversed) region, a fragment of the Y chromosome short arm, can cause chromosomally female XXSxr or XSxrO mice to develop as sterile males1–3. The original Sxr region, termed Sxra,Expand
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Human H-Y: a male-specific histocompatibility antigen derived from the SMCY protein.
H-Y is a transplantation antigen that can lead to rejection of male organ and bone marrow grafts by female recipients, even if the donor and recipient match at the major histocompatibility locus ofExpand
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