Cloning of the T gene required in mesoderm formation in the mouse

BG Herrmann, S Labeit, A Poustka, TR King, H Lehrach - Nature, 1990 - nature.com
The murine developmental mutation T identifies an essential gene in mesoderm formation.
Embryos lacking normal gene activity fail to form the notochord, the entire posterior region …

Transmission ratio distortion in mice

MF Lyon - Annual review of genetics, 2003 - annualreviews.org
▪ Abstract The most studied example of transmission ratio distortion (TRD) in mice is that of
the t-complex. This is a variant region of Chromosome 17 which exists as a polymorphism in …

Identification and characterization of a spinal muscular atrophy-determining gene

S Lefebvre, L Bürglen, S Reboullet, O Clermont… - Cell, 1995 - cell.com
Spinal muscular atrophy (SMA) is a common fatal autosomal recessive disorder
characterized by degeneration of lower motor neurons, leading to progressive paralysis with …

Identification and characterization of the tuberous sclerosis gene on chromosome 16

European Chromosome 16 Tuberous Sclerosis … - Cell, 1993 - Elsevier
Tuberous sclerosis (TSC) is an autosomal dominant multisystem disorder with loci assigned
to chromosomes 9 and 16. Using pulsed-field gel electrophoresis (PFGE), we identified five …

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

JR Lupski, RM de Oca-Luna, S Slaugenhaupt… - Cell, 1991 - cell.com
Summary Charcot-Marie-Tooth disease type 1 A (CMTi A) was localized by genetic mapping
to a 3 CM interval on human chromosome 17~. DNA markers within this interval revealed a …

The mouse insulin-like growth factor type-2 receptor is imprinted and closely linked to the Tme locus

DP Barlow, R Stöger, BG Herrmann, K Saito… - Nature, 1991 - nature.com
T-ASSOCIATED maternal effect (Tme) is the only known maternal-effect mutation in the
mouse1, 2. The defect is nuclear-encoded3 and embryos that inherit a deletion of the Tme …

Flip and flop: a cell-specific functional switch in glutamate-operated channels of the CNS

B Sommer, K Keinänen, TA Verdoorn, W Wisden… - Science, 1990 - science.org
In the central nervous system (CNS), the principal mediators of fast synaptic excitatory
neurotransmission are L-glutamate-gated ion channels that are responsive to the glutamate …

Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping

M Gessler, A Poustka, W Cavenee, RL Neve, SH Orkin… - Nature, 1990 - nature.com
CYTOGENETIC analysis has identified chromosome Ilpl3 as the smallest overlap region for
deletions found in individuals with WAGR syndrome, which includes Wilms tumour (a …

Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease — a contiguous gene syndrome

PT Brook-Carter, B Peral, CJ Ward, P Thompson… - Nature …, 1994 - nature.com
Major genes which cause tuberous sclerosis (TSC) and autosomal dominant polycystic
kidney disease (ADPKD), known as TSC2 and PKD1 respectively, lie immediately adjacent …

Maternal-specific methylation of the imprinted mouse Igf2r locus identifies the expressed locus as carrying the imprinting signal

R Stöger, P Kubička, CG Liu, T Kafri, A Razin, H Cedar… - Cell, 1993 - Elsevier
The mouse insulin-like growth factor type 2 receptor (Igf2r) is imprinted and expressed
exclusively from the maternally inherited chromosome. To investigate whether methylation …