-
Haploinsufficiency in
genetics describes a
model of
dominant gene
action in
diploid organisms, in
which a
single copy of the wild-type
allele at a locus...
- gene in this region.
These genetic data
suggest that CUX1 may be a
haploinsufficient tumor suppressor gene. In
addition to LOH events,
large scale DNA...
-
region 7q11.23. This is a
heterozygous deletion,
which results in
haploinsufficient expression of the 25–27
genes in this region. CLIP2, ELN, GTF2I, GTF2IRD1...
-
question is
required in two
copies to
elicit a
normal phenotype (i.e.
haploinsufficient).
Hypomorphic describes a
mutation that
causes a
partial loss of gene...
- Hageman, Daniel; Wagenseil, Jessica E. (2012). "Murray's Law in
Elastin Haploinsufficient (Eln+/-) and Wild-Type (WT) Mice".
Journal of
Biomechanical Engineering...
- PMID 11665719. Lam MH, Liu Q,
Elledge SJ,
Rosen JM (July 2004). "Chk1 is
haploinsufficient for
multiple functions critical to
tumor suppression".
Cancer Cell...
- in CTLA4
haploinsufficient patients),
autoimmune infiltration (of non-lymphoid organs, also
resembling that
found in CTLA4
haploinsufficient patients)...
- mutations. 70% of patients.
Autosomal dominant.
Dominant negative and
haploinsufficient mutations described. ALPS-sFAS: Fas.
Somatic FAS
mutations in DNT...
-
observed almost exclusively in AD patients,
indicating that SORL1 is
haploinsufficient. However, most
variants are rare
missense variants that can be benign...
- Parker-Thornburg, Jan; Rapado,
Inmaculada (12
October 2015). "hnRNP K Is a
Haploinsufficient Tumor Suppressor that
Regulates Proliferation and Differentiation...
