rai1 gene and deletion and duplication | RAI1 gene: MedlinePlus Geneti

Keyword	CPC	PCC	Volume	Score	Length of keyword
rai1 gene and deletion and duplication	0.88	0.3	4202	26	38
rai1	1.21	1	5155	78	4
gene	0.94	0.5	2576	75	4
and	1.48	0.2	9373	49	3
deletion	0.06	0.6	9838	81	8
and	0.28	0.6	8441	17	3
duplication	0.05	0.7	2290	67	11

Keyword	CPC	PCC	Volume	Score
rai1 gene and deletion and duplication	1.65	0.5	5665	66

Search Results related to rai1 gene and deletion and duplication on Search Engine

RAI1 gene: MedlinePlus Genetics
medlineplus.gov

https://medlineplus.gov/genetics/gene/rai1/

It is unclear how a loss of one copy of the RAI1 gene leads to the other physical, mental, and behavioral problems associated with this condition. A small percentage of people with Smith-Magenis syndrome have a mutation in the RAI1 gene instead of a chromosomal deletion. Although these individuals have many of the major features of the condition, they are less likely than people with a deletion to have certain other features, including short stature, hearing loss, and heart or kidney ...

DA: 51 PA: 44 MOZ Rank: 83

Rai1 duplication causes physical and behavioral phenotypes ...
princeton.edu

https://web.math.princeton.edu/~sswang/CB-pediatric/autism/walz_lupski_Rai1-duplication-mouse.pdf

The identification of the dosage-sensitive gene(s) within the rearranged genomic interval is important for the elucidation of genes responsible for complex neurobehavioral phenotypes. Smith-Magenis syndrome is associated with a 3.7-Mb deletion in 17p11.2, and its clinical presentation is caused by retinoic acid inducible 1 (RAI1) haploinsufficiency. The reciprocal microduplication syndrome, dup(17)(p11.2p11.2), manifests several

DA: 23 PA: 62 MOZ Rank: 72

Rai1 duplication causes physical and behavioral phenotypes ...
nih.gov

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1590269/

Remarkably, Dp17/Rai1 – mice, carrying 2 copies of the Rai1 gene but 3 copies of the other 18 genes in the chromosome-engineered duplication interval, showed body weight similar to that of the wild-type animals, and their weight was significantly different from that of the Dp17/+ and Rai1 +/– mice.

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Gene: RAI1
sfari.org

https://gene.sfari.org/database/human-gene/RAI1

RAI1 was included within a 17p11.2 duplication identified in an individual with autism and intellectual disability and showed altered gene expression (Nakamine et al., 2008); it was identified as the single gene in this interval that overlaps with the region affected in Potocki-Lupski syndrome, making it those most likely candidate.

DA: 67 PA: 13 MOZ Rank: 33

RAI1 gene 17p11.2 deletion and duplication mutation ...
findacode.com

https://www.findacode.com/loinc/73750-2--rai1-17p112-deldup-bldt-fish.html

FISH studies are performed using an SMS probe to detect a deletion or duplication within the critical region of the retinoic acid induced 1 (RAI1) gene on chromosome 17p11.2. FISH signal pattern indicating a loss of the RAI1 critical region is consistent with a diagnosis of 17p11.2 deletion (Smith-Magenis) syndrome.

DA: 53 PA: 59 MOZ Rank: 87

RAI1 Gene Sequencing & Del/Dup
genedx.com

https://www.genedx.com/test-catalog/available-tests/rai1-gene-sequencing-deldup/

Girirajan, S. et al., RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions. J Med Genet. 42: 820-28, 2005 Bi, W. et al., Mutations of RAI1, a PHD-containing protein, in non-deletion patients with Smith-Magenis syndrome.

DA: 79 PA: 35 MOZ Rank: 4

OMIM Entry - * 607642 - RETINOIC ACID-INDUCED GENE 1; RAI1
omim.org

https://www.omim.org/entry/607642

Walz et al. (2006) concluded that duplication of Rai1 is responsible for decreased body weight in Dp(11)17 mice and that Rai1 is a dosage-sensitive gene involved in body weight control and complex behavioral responses. Girirajan et al. (2008) generated transgenic mice with 4 and 6 copies of the Rai1 gene. The mice showed growth retardation, increased locomotor activity, impaired sensorimotor activity, and abnormal anxiety-related behavior compared to wildtype littermates.

DA: 10 PA: 97 MOZ Rank: 28

Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene ...
eurekaselect.com

https://www.eurekaselect.com/openurl/content.php?genre=article&issn=1389-2029&volume=11&issue=8&spage=607

Title: Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral Alterations Including Autistic Behavior VOLUME: 11 ISSUE: 8 Author(s):Paulina Carmona-Mora and Katherina Walz Affiliation:Miller School of Medicine, University of Miami, 1501 NW 10th Avenue, Room 418, Miami, FL 33136, USA. Keywords:Copy Number Variation, dosage sensitive gene, neurobehavioral traits ...

DA: 73 PA: 4 MOZ Rank: 24

Two interstitial rearrangements (16q deletion and 17p ...
nih.gov

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4270714/

However, this patient shows a duplication of 5.89 Mb, larger than that common duplication The size of duplication in the patient does not appear to be important because it has seen that alteration in copy number of RAI1 gene is predominantly responsible for the 17p duplication phenotype .

DA: 63 PA: 94 MOZ Rank: 14

Deletion/Duplication Analysis - GeneDx
genedx.com

https://stage.genedx.com/test-catalog/exonarraydx-deldup-testing/

As a primary test in a Mendelian disorder due to haploinsufficiency when sequence analysis fails to identify a causative mutation; in particular when whole or partial gene deletions are a known cause for the disorder (i.e., STK11 deletion associated with Peutz-Jeghers syndrome or RAI1 deletion associated with Smith-Magenis syndrome).

DA: 6 PA: 41 MOZ Rank: 11