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Longer titles found: Haploinsufficiency of A20 (view)

searching for Haploinsufficiency 126 found (214 total)

SOX8 (606 words) [view diff] exact match in snippet view article find links to article

This protein may be involved in brain development and function. Haploinsufficiency for this protein may contribute to the mental retardation found in

Aplasia cutis congenita (519 words) [view diff] exact match in snippet view article find links to article

This dermatological manifestation has been linked to Peptidase D haploinsufficiency and a deletion in Chromosome 19. Review Edwards disease This condition

SETBP1 (1,419 words) [view diff] exact match in snippet view article find links to article

AN, Miny P, Yamamoto T (Feb 2011). "Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype

Forkhead box protein O1 (3,343 words) [view diff] exact match in snippet view article find links to article

combination of FOXO1 and Notch-1 haploinsufficiency was more effective at restoring insulin sensitivity than FOXO1 haploinsufficiency alone. Insulin-producing

Lamb-Shaffer syndrome (562 words) [view diff] exact match in snippet view article find links to article

Pouncey J, Stevens, C., Mackay-Loder L, Terespolsky D, and 31 others. Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent

9q34.3 deletion syndrome (1,581 words) [view diff] exact match in snippet view article find links to article

subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype". Journal of Medical Genetics. 46 (9): 598–606

Homeobox protein MSX-1 (2,178 words) [view diff] exact match in snippet view article find links to article

syndrome, Wolf–Hirschhorn syndrome, and autosomal dominant hypodontia. Haploinsufficiency of MSX1 protein affects the development of all teeth, preferentially

CD2AP (1,288 words) [view diff] exact match in snippet view article find links to article

trafficking that occurs during receptor endocytosis and cytokinesis. Haploinsufficiency of this gene is implicated in susceptibility to glomerular disease

Chimerin (803 words) [view diff] exact match in snippet view article find links to article

insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved

FKBP6 (343 words) [view diff] exact match in snippet view article find links to article

inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6". Clin Dysmorphol. 14 (2): 61–5. doi:10.1097/00019605-200504000-00002

Desmoplakin (3,242 words) [view diff] exact match in snippet view article find links to article

KE, Purkis PE, Green KJ, Eady RA, Leigh IM, Hughes AE (Jan 1999). "Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma"

ALX4 (1,078 words) [view diff] exact match in snippet view article find links to article

JL, McCaskill C, Vogel H, Potocki L, Shaffer LG (November 2000). "Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous

LMX1B (1,074 words) [view diff] exact match in snippet view article find links to article

entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in

Collagen, type VI, alpha 1 (1,022 words) [view diff] exact match in snippet view article find links to article

heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency". Hum. Mol. Genet. 7 (6): 981–9. doi:10.1093/hmg/7.6.981. PMID 9580662

Sotos syndrome (1,019 words) [view diff] exact match in snippet view article find links to article

Imaizumi K, Harada N, Masuno M, Kondoh T, Nagai T, et al. (April 2002). "Haploinsufficiency of NSD1 causes Sotos syndrome". Nat. Genet. 30 (4): 365–6. doi:10

Wolf–Hirschhorn syndrome (922 words) [view diff] exact match in snippet view article find links to article

phenotypic characteristics of WHS are thought to be caused by the haploinsufficiency of the genes Wolf-Hirschhorn syndrome candidate 1 (WHSC1), which is

Anticipation (genetics) (710 words) [view diff] exact match in snippet view article

, Cohen A. R., Chakravarti A., Hamosh A., Greider C. W. (2005). "Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal

NFIA (851 words) [view diff] exact match in snippet view article find links to article

Ligon AH, Quade BJ, Morton CC, Gusella JF, Maas RL (May 2007). "NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects"

Léri–Weill dyschondrosteosis (294 words) [view diff] exact match in snippet view article find links to article

ICD-9-CM: 756.59 OMIM: 127300 MeSH: C537119 DiseasesDB: 31950 External resources GeneReviews: SHOX-Related Haploinsufficiency Disorders Orphanet: 240

KLF1 (1,159 words) [view diff] exact match in snippet view article find links to article

Lindern M, Felice AE, Patrinos GP, Philipsen S (September 2010). "Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence

FOXG1 (1,033 words) [view diff] exact match in snippet view article find links to article

Schell-Apacik C, von Voss H, Tommerup N, Ropers HH, Kalscheuer VM (2005). "Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation

PAX1 (1,044 words) [view diff] exact match in snippet view article find links to article

"Targeted disruption of Pax1 defines its null phenotype and proves haploinsufficiency". Proc. Natl. Acad. Sci. U.S.A. 95 (15): 8692–7. Bibcode:1998PNAS

SET domain containing protein 1A (365 words) [view diff] exact match in snippet view article find links to article

Kramer JM, Kleefstra T (June 2021). "Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome"

Collagen, type V, alpha 2 (1,121 words) [view diff] exact match in snippet view article find links to article

PMID 9783710. Wenstrup RJ, Florer JB, Willing MC, et al. (2001). "COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS"

Mir-802 microRNA precursor family (736 words) [view diff] exact match in snippet view article find links to article

"Trisomy-21 gene dosage over-expression of miRNAs results in the haploinsufficiency of specific target proteins". RNA Biol. 7 (5): 540–7. doi:10.4161/rna

RANBP2 (2,020 words) [view diff] exact match in snippet view article find links to article

(Oct 2006). "RanBP2 modulates Cox11 and hexokinase I activities and haploinsufficiency of RanBP2 causes deficits in glucose metabolism". PLOS Genetics. 2

Peruvian Hairless Dog (1,061 words) [view diff] exact match in snippet view article find links to article

(2017-07-14). "The dental phenotype of hairless dogs with FOXI3 haploinsufficiency". Scientific Reports. 7 (1): 5459. Bibcode:2017NatSR...7.5459K. doi:10

22q13 deletion syndrome (4,022 words) [view diff] exact match in snippet view article find links to article

characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms". J. Med. Genet

Rabconnectin-3A (1,316 words) [view diff] exact match in snippet view article find links to article

DMXL2 plays a role in puberty and is a regulator of Notch signalling. Haploinsufficiency of DMXL2 causes delayed puberty, reduced fertility, and abnormal glucose

TCF4 (1,152 words) [view diff] exact match in snippet view article find links to article

Hoyer J, Sousa S, Bottani A, Clayton-Smith J, et al. (May 2007). "Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation

PITX1 (1,277 words) [view diff] exact match in snippet view article find links to article

Aferol H, Silva MJ, Garbow JR, Spees WM, et al. (October 2011). "Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice".

HHIPL1 (1,080 words) [view diff] exact match in snippet view article find links to article

Glass K, Qiu W, Polverino F, Gupta K, Morrow J, et al. (2015-01-01). "Haploinsufficiency of Hedgehog interacting protein causes increased emphysema induced

PAX9 (1,473 words) [view diff] exact match in snippet view article find links to article

Bauer C, Shaffer LG, D'Souza RN, Wright T, Patel PI (April 2002). "Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia". Human Genetics

Chinese Crested Dog (2,172 words) [view diff] exact match in snippet view article find links to article

M. S. (2017). "The dental phenotype of hairless dogs with FOXI3 haploinsufficiency". Scientific Reports. 7 (1): 5459. Bibcode:2017NatSR...7.5459K. doi:10

Separase (1,199 words) [view diff] exact match in snippet view article find links to article

Paudyal S, Nakamura LV, Zhang N, Li JT, et al. (September 2020). "Haploinsufficiency of cohesin protease, Separase, promotes regeneration of hematopoietic

BCL11A (1,704 words) [view diff] exact match in snippet view article find links to article

Kleefstra T, Liu P, Hurles ME, Fisher SE, Logan DW (August 2016). "BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription"

Dynamin-like 120 kDa protein (1,957 words) [view diff] exact match in snippet view article find links to article

of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease". Journal of Medical Genetics. 39 (8): 47e–47

SATB2 (1,665 words) [view diff] exact match in snippet view article find links to article

with Robin sequence. In addition, mouse models have demonstrated haploinsufficiency of SATB2 results in craniofacial defects that phenocopy those caused

NSD1 (300 words) [view diff] exact match in snippet view article find links to article

T, Kishino T, Fukushima Y, Niikawa N, Matsumoto N (April 2002). "Haploinsufficiency of NSD1 causes Sotos syndrome". Nat. Genet. 30 (4): 365–6. doi:10

YY1 (1,925 words) [view diff] exact match in snippet view article find links to article

Germain PL, Vitriolo A, Kumar R, Douglas E, et al. (June 2017). "YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional

Adrenomedullin (1,432 words) [view diff] exact match in snippet view article find links to article

Richards GO, Li M, Skerry TM, Caron KM (July 2011). "Research resource: Haploinsufficiency of receptor activity-modifying protein-2 (RAMP2) causes reduced fertility

Msh homeobox 2 (1,629 words) [view diff] exact match in snippet view article find links to article

JA, Wall SA, Chrzanowska KH, Maxson RE (April 2000). "Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification"

NOBOX (2,187 words) [view diff] exact match in snippet view article find links to article

strong autosomal candidate for POF and its genetic mechanism involves haploinsufficiency. However, these mutations were not found in Chinese and Japanese women

Acrokeratoelastoidosis of Costa (1,714 words) [view diff] exact match in snippet view article find links to article

Reversade, Bruno; Munro, Colin S; McLean, W H Irwin (October 14, 2012). "Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar

Frontotemporal lobar degeneration (2,225 words) [view diff] exact match in snippet view article find links to article

overproduced, however the mutations seen in FTLD-TDP43 produce a haploinsufficiency, meaning that because one of the two alleles is damaged, only half

Granulopoiesis (1,916 words) [view diff] exact match in snippet view article find links to article

Ling; Broglie, Larisa; Eklund, Elizabeth A. (2018-03-15). "TP53 Haploinsufficiency Rescues Emergency Granulopoiesis in FANCC −/− Mice". The Journal of

Chromosome 22 (2,206 words) [view diff] exact match in snippet view article find links to article

characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSASP2 in the major neurological symptoms". J Med Genet

Methyl-cpg binding domain protein 5 (752 words) [view diff] exact match in snippet view article find links to article

catalyzes the deubiquitination of a lysine residue of histone 2A. Haploinsufficiency of this gene is associated with a variety of Kleefstra syndrome involving

Isolated congenital asplenia (389 words) [view diff] exact match in snippet view article find links to article

Bolze A, Mahlaoui N, Byun M, et al. (2013). "Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia". Science. 340 (6135):

Distal 18q- (1,848 words) [view diff] exact match in snippet view article find links to article

(Paris). 12: 579–582. Zweier C, Peippo MM, Hoyer J, et al. (May 2007). "Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation

Serine hydroxymethyltransferase (2,378 words) [view diff] exact match in snippet view article find links to article

S, Finucane BM, Pandolfo M, Greenberg F, et al. (December 1995). "Haploinsufficiency of cytosolic serine hydroxymethyltransferase in the Smith-Magenis

Autoimmune lymphoproliferative syndrome (2,435 words) [view diff] exact match in snippet view article find links to article

V. K.; Davis, J.; Fleisher, T. A.; Oliveira, J. B. (2011). "FAS Haploinsufficiency is a Common Disease Mechanism in the Human Autoimmune Lymphoproliferative

NK2 homeobox 1 (2,118 words) [view diff] exact match in snippet view article find links to article

"Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency". The Journal of Clinical Investigation. 109 (4): 475–80. doi:10.1172/JCI14341

MYF5 (2,355 words) [view diff] exact match in snippet view article find links to article

(2011). "Defective cranial skeletal development, larval lethality and haploinsufficiency in Myod mutant zebrafish". Developmental Biology. 358 (1): 102–12

GLUT1 (2,591 words) [view diff] exact match in snippet view article find links to article

De Vivo DC (February 1998). "GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood–brain barrier hexose carrier". Nature Genetics. 18 (2):

Chromosomal deletion syndrome (1,128 words) [view diff] exact match in snippet view article find links to article

disability, seizures, and distinctive craniofacial features) is due to haploinsufficiency of several closely linked genes as opposed to a single gene. Related

FLNC (gene) (2,371 words) [view diff] exact match in snippet view article

"Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency". Neurology. 77 (24): 2105–14. doi:10.1212/WNL.0b013e31823dc51e. PMID 22131542

CLIP2 (753 words) [view diff] exact match in snippet view article find links to article

of Cyln2 in the Williams syndrome critical region links CLIP-115 haploinsufficiency to neurodevelopmental abnormalities in mice". Nat. Genet. 32 (1):

FHIT (747 words) [view diff] exact match in snippet view article find links to article

cancer susceptibility in Fhit-deficient mice is increased by Vhl haploinsufficiency". Cancer Res. 65 (15): 6576–82. doi:10.1158/0008-5472.CAN-05-1128

Negative elongation factor (990 words) [view diff] exact match in snippet view article find links to article

O'Driscoll M (May 2012). "Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in

ASH1L (3,070 words) [view diff] exact match in snippet view article find links to article

disease, which may be the result of two different genetic mechanisms: haploinsufficiency or dominant negative function. The ClinGen clinical genomics resource

SMCHD1 (430 words) [view diff] exact match in snippet view article find links to article

Bruno (2022-06-23). "HOX epimutations driven by maternal SMCHD1/LRIF1 haploinsufficiency trigger homeotic transformations in genetically wildtype offspring"

APOM (1,076 words) [view diff] exact match in snippet view article find links to article

M gene expression by MODY3 gene hepatocyte nuclear factor-1alpha: haploinsufficiency is associated with reduced serum apolipoprotein M levels". Diabetes

MTORC2 (3,678 words) [view diff] exact match in snippet view article find links to article

lifespan in D. melanogaster with no reduction in fertility and Akt haploinsufficiency, an mTORC2 downstream target, extended lifespan in mice. The mTORC2

CTCF (3,172 words) [view diff] exact match in snippet view article find links to article

Moser R, Bernard B, Teater M, Smith LE, et al. (May 2014). "CTCF haploinsufficiency destabilizes DNA methylation and predisposes to cancer". Cell Reports

Suranjith Seneviratne (768 words) [view diff] exact match in snippet view article find links to article

studies on patients with Hyper IgM syndrome, LRBA deficiency, CTLA4 Haploinsufficiency, Hyper IgE syndrome, CVID, Complement deficiencies, Food Allergy and

Caprin-1 (725 words) [view diff] exact match in snippet view article find links to article

Scherer SW, Ferrero GB, Wirth B, Brusco A (July 2022). "CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD

Collagen, type III, alpha 1 (3,480 words) [view diff] exact match in snippet view article find links to article

Dyer E, Denvir MA, Brownstein D, Miller E, et al. (April 2011). "Haploinsufficiency of the murine Col3a1 locus causes aortic dissection: a novel model

Emily Bernstein (1,039 words) [view diff] exact match in snippet view article find links to article

Wang, Zichen; Gallagher, Stuart J.; Hersey, Peter (2018). "SIRT6 haploinsufficiency induces BRAFV600E melanoma cell resistance to MAPK inhibitors via

EME1 (599 words) [view diff] exact match in snippet view article find links to article

Katsura M, Yoshihara T, Ishida M, Kinomura A, Tonda T, et al. (2006). "Haploinsufficiency of the Mus81-Eme1 endonuclease activates the intra-S-phase and G2/M

MyoD (3,405 words) [view diff] exact match in snippet view article find links to article

2011). "Defective cranial skeletal development, larval lethality and haploinsufficiency in Myod mutant zebrafish". Dev. Biol. 358 (1): 102–112. doi:10.1016/j

GCNT1 (1,073 words) [view diff] exact match in snippet view article find links to article

PMC 1356129. PMID 16344560. Cabrera PV, Amano M, Mitoma J, et al. (2006). "Haploinsufficiency of C2GnT-I glycosyltransferase renders T lymphoma cells resistant

Witteveen–Kolk syndrome (213 words) [view diff] exact match in snippet view article find links to article

Ravenswaaij-Arts, Conny M. A.; Wassink-Ruiter, Jolien S. Klein (August 2016). "Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild

LRBA deficiency (1,110 words) [view diff] exact match in snippet view article find links to article

significant clinical phenotypic overlap with disease caused by CTLA4 haploinsufficiency. Since LRBA loss results in a loss of CTLA4 protein, the immune dysregulation

DNAJC30 (543 words) [view diff] exact match in snippet view article find links to article

of the skin, and unique cognitive and personality profiles. While haploinsufficiency of elastin is known to cause the cardiovascular deficiencies, the

Green ribbon (1,667 words) [view diff] exact match in snippet view article find links to article

Assault (teal & purple), Hypotonia (lime green, blue, & pink), MEF2C Haploinsufficiency Syndrome (lime green & black, with DNA strand), Medullary Sponge Kidney

Reeler (1,459 words) [view diff] exact match in snippet view article find links to article

Biamonte F, Marrone C, Mercuri NB, Keller F (March 2009). "Reelin haploinsufficiency reduces the density of PV+ neurons in circumscribed regions of the

Adams–Oliver syndrome (1,952 words) [view diff] exact match in snippet view article find links to article

Snape, Katie M.; Dallapiccola, Bruno; Tolmie, John L. (2015-08-01). "Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable

SHANK3 (1,551 words) [view diff] exact match in snippet view article find links to article

Silverman JL, Crawley JN, Zhou Q, Hof PR, Buxbaum JD (December 2010). "Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic

LRBA deficiency (1,110 words) [view diff] exact match in snippet view article find links to article

significant clinical phenotypic overlap with disease caused by CTLA4 haploinsufficiency. Since LRBA loss results in a loss of CTLA4 protein, the immune dysregulation

SF3B4 (1,349 words) [view diff] exact match in snippet view article find links to article

Nickerson DA, Shendure J, Bamshad MJ, Parboosingh JS (May 2012). "Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes

Stephen Elledge (2,397 words) [view diff] exact match in snippet view article find links to article

John C.; Park, Peter J.; Elledge, Stephen J. (2013). "Cumulative haploinsufficiency and triplosensitivity drive aneuploidy patterns and shape the cancer

CHD2 (1,703 words) [view diff] exact match in snippet view article find links to article

Tihy F, So J, Scherer SW, Lemyre E, Stavropoulos DJ (2014). "CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy

Plakophilin-2 (4,002 words) [view diff] exact match in snippet view article find links to article

current deficit and arrhythmogenesis in a murine model of plakophilin-2 haploinsufficiency". Cardiovascular Research. 95 (4): 460–8. doi:10.1093/cvr/cvs218.

EFTUD2 (1,352 words) [view diff] exact match in snippet view article find links to article

Böhm D, Majewski J, Bulman DE, Wieczorek D, Boycott KM (Feb 2012). "Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial

Exocyst complex component 6b (337 words) [view diff] exact match in snippet view article find links to article

Rajcan-Separovic E (July 2013). "Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent

SALL4 (4,631 words) [view diff] exact match in snippet view article find links to article

common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism". Journal of Medical Genetics. 41 (9):

CHD8 (1,614 words) [view diff] exact match in snippet view article find links to article

NA, Riyadh MA, Stradleigh TW, et al. (August 2017). "Germline Chd8 haploinsufficiency alters brain development in mouse". Nature Neuroscience. 20 (8): 1062–1073

MUS81 (1,402 words) [view diff] exact match in snippet view article find links to article

T, Ishida M, Kinomura A, Tonda T, Asahara T, Miyagawa K (2006). "Haploinsufficiency of the Mus81-Eme1 endonuclease activates the intra-S-phase and G2/M

Naomichi Matsumoto (914 words) [view diff] exact match in snippet view article find links to article

Ohta, T; Kishino, T; Fukushima, Y; Niikawa, N; Matsumoto, N (2002). "Haploinsufficiency of NSD1 causes Sotos syndrome". Nature Genetics. 30 (4): 365–6. doi:10

Chromatin remodeling (5,523 words) [view diff] exact match in snippet view article find links to article

syndrome, an autosomal dominant disorder, has been linked recently to haploinsufficiency of CHD7, which encodes the CHD family ATPase CHD7. Chromatin architectural

ALDH1A2 (2,034 words) [view diff] exact match in snippet view article find links to article

ventricular septal defect, and tetralogy of fallot are being explained by haploinsufficiency of genes including sarcomeric proteins, extracellular matrix proteins

Episodic ataxia (3,128 words) [view diff] exact match in snippet view article find links to article

alter potassium channel function by dominant negative effects or haploinsufficiency". J Neurosci. 18 (8): 2842–8. doi:10.1523/JNEUROSCI.18-08-02842.1998

Genocopy (874 words) [view diff] exact match in snippet view article find links to article

mutations in the TBX1 genome exhibit the same symptoms. The TBX1 haploinsufficiency is responsible for many of the traits that are also seen in 22q11

ADCK2 (278 words) [view diff] exact match in snippet view article find links to article

Artuch, R; Cabo, R; Jackson, S; Navas, P (2 September 2019). "ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated

Down syndrome (14,436 words) [view diff] exact match in snippet view article find links to article

DC (April 2012). "Down syndrome as a model of DNA polymerase beta haploinsufficiency and accelerated aging". Mechanisms of Ageing and Development. 133

SYNGAP1 (2,243 words) [view diff] exact match in snippet view article find links to article

intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency". Human Mutation. 34 (2): 385–94. doi:10.1002/humu.22248. PMID 23161826

Telomerase reverse transcriptase (5,301 words) [view diff] exact match in snippet view article find links to article

2003). "Deletion of the telomerase reverse transcriptase gene and haploinsufficiency of telomere maintenance in Cri du chat syndrome". American Journal

KLF4 (6,943 words) [view diff] exact match in snippet view article find links to article

McConnell BB, Nandan MO, Katz JP, Kaestner KH, Yang VW (August 2007). "Haploinsufficiency of Krüppel-like factor 4 promotes adenomatous polyposis coli dependent

Ribosomopathy (2,436 words) [view diff] exact match in snippet view article find links to article

Turner B, Trede N, Ellis SR, et al. (May 2013). "Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia". Science. 340 (6135):

MAP3K7IP2 (1,677 words) [view diff] exact match in snippet view article find links to article

Waggoner D, Gewillig M, Moreau Y, Devriendt K, Larsen LA (2010). "Haploinsufficiency of TAB2 causes congenital heart defects in humans". Am J Hum Genet

Mediator (coactivator) (3,502 words) [view diff] exact match in snippet view article

cell-derived organs and intellectual disability caused by MED13L haploinsufficiency". Hum Mutat. 35 (11): 1311–20. doi:10.1002/humu.22636. PMID 25137640

Veena Parnaik (853 words) [view diff] exact match in snippet view article find links to article

PMID 17006023. S2CID 5871612. Sehgal, Poonam (25 February 2013). "Lamin A/C Haploinsufficiency Modulates the Differentiation Potential of Mouse Embryonic Stem Cells"

Granulin (3,334 words) [view diff] exact match in snippet view article find links to article

function. Heterozygous mutation of the GRN gene leading to progranulin haploinsufficiency causes frontotemporal dementia. These mutations include frameshift

PROX1 (1,103 words) [view diff] exact match in snippet view article find links to article

Natasha L (October 2005). "Lymphatic vascular defects promoted by Prox1 haploinsufficiency cause adult-onset obesity". Nature Genetics. 37 (10): 1072–1081. doi:10

Epilepsy (17,951 words) [view diff] exact match in snippet view article find links to article

Argiropoulos B, Lauzon J, Laframboise R, Ahn JW, et al. (2014). "CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy

KHDRBS1 (2,812 words) [view diff] exact match in snippet view article find links to article

Vogel G, Huot ME, Guo T, Muller WJ, Lukong KE (Jan 2008). "Sam68 haploinsufficiency delays onset of mammary tumorigenesis and metastasis". Oncogene. 27

C1orf141 (1,153 words) [view diff] exact match in snippet view article find links to article

Turbe-Doan, Annick; Li, Qing-Gang; Campbell, Craig G. (2007). "NFIA Haploinsufficiency Is Associated with a CNS Malformation Syndrome and Urinary Tract Defects"

Primary pigmented nodular adrenocortical disease (1,578 words) [view diff] exact match in snippet view article find links to article

splice-site mutation, which causes exon-6 skipping. Therefore, both haploinsufficiency and the complete loss of PRKAR1α can lead to the increased PKA activity

Ashok Venkitaraman (1,462 words) [view diff] exact match in snippet view article find links to article

2017). "A Class of Environmental and Endogenous Toxins Induces BRCA2 Haploinsufficiency and Genome Instability". Cell. 169 (6): 1105–1118.e15. doi:10.1016/j

MTOR (12,710 words) [view diff] exact match in snippet view article find links to article

PMID 15046607. Nojima A, Yamashita M, Yoshida Y, et al. (2013-01-01). "Haploinsufficiency of akt1 prolongs the lifespan of mice". PLOS ONE. 8 (7): e69178. Bibcode:2013PLoSO

Jeffrey Flier (3,580 words) [view diff] exact match in snippet view article find links to article

sensitivity and attenuation of diet-induced obesity in mice with haploinsufficiency of Socs3". Nature Medicine. 10 (7): 734–8. doi:10.1038/nm1072. PMID 15220914

Joseph Buxbaum (2,412 words) [view diff] exact match in snippet view article find links to article

Nagahide; Kajiwara, Yuji; Yang, Mu; Katz, Adam M. (2010-01-01). "Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic

AI-10-49 (2,849 words) [view diff] exact match in snippet view article find links to article

Legare RD, Hutchings S, Tan X, Kufrin D, et al. (October 1999). "Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop

Severe intellectual disability-progressive spastic diplegia syndrome (2,374 words) [view diff] exact match in snippet view article find links to article

(June 2014). "A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency". American Journal of Medical Genetics. Part A. 164A (6): 1571–1575

MiR-155 (10,421 words) [view diff] exact match in snippet view article find links to article

"Trisomy-21 gene dosage over-expression of miRNAs results in the haploinsufficiency of specific target proteins". RNA Biology. 7 (5): 540–547. doi:10

Congenital mirror movement disorder (2,817 words) [view diff] exact match in snippet view article find links to article

Corvol, Jean-Christophe; Saraiva, Jean-Paul (2012-02-10). "RAD51 haploinsufficiency causes congenital mirror movements in humans". American Journal of

Congenital mirror movement disorder (2,817 words) [view diff] exact match in snippet view article find links to article

Corvol, Jean-Christophe; Saraiva, Jean-Paul (2012-02-10). "RAD51 haploinsufficiency causes congenital mirror movements in humans". American Journal of

Lisa Monteggia (2,312 words) [view diff] exact match in snippet view article find links to article

Kavalali ET (2018) Behavioral analysis of SNAP-25 and Synaptobrevin-2 haploinsufficiency in mice. Neuroscience, in press. Horvath PM, Monteggia LM (2017) Engineering

Bone marrow adipose tissue (5,152 words) [view diff] exact match in snippet view article find links to article

Bornstein S, Rostama B, Le P, Lotinun S, et al. (September 2011). "VDR haploinsufficiency impacts body composition and skeletal acquisition in a gender-specific

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (1,534 words) [view diff] exact match in snippet view article find links to article

which is RVCL. The mutant TREX1 protein is produced and mislocalized. Haploinsufficiency of TREX1 does not explain the disease, since the parents of patients

Bruno Reversade (4,277 words) [view diff] exact match in snippet view article find links to article

Pohler, Elizabeth; Mamai, Ons; Hirst, Jennifer; et al. (2012-10-14). "Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar

Courtney A. Miller (2,351 words) [view diff] exact match in snippet view article find links to article

Y, Petralia RS, Page DT, Miller CA and Rumbaugh G (2015) Syngap1 haploinsufficiency damages a postnatal critical period of pyramidal cell structural maturation

Thymidine kinase in clinical chemistry (9,988 words) [view diff] exact match in snippet view article find links to article

"Increased proliferative background in healthy women with BRCA1/2 haploinsufficiency is associated with high risk for breast cancer". Cancer Epidemiol

Alcino J. Silva (6,318 words) [view diff] exact match in snippet view article find links to article

V.; Silva, A.J. (2012). "Gestational immune activation and Tsc2 haploinsufficiency cooperate to disrupt fetal survival and may perturb social behavior

January–March 2023 in science (28,844 words) [view diff] exact match in snippet view article find links to article

Judith B.; Acuna, Claudio; Mall, Moritz (14 February 2023). "MYT1L haploinsufficiency in human neurons and mice causes autism-associated phenotypes that