Sos1 gene noonan syndrome. Medical search. Frequent questions

SHP2 (encoded by PTPN11), SOS1, BRAF, RAF1 and MEK1 positively contribute to RAS-MAPK signaling through complex autoinhibitory mechanisms, that fail when these genes have mutated. (biomedcentral.com)
More than 25 mutations causing Noonan syndrome have been identified in the RAF1 gene. (nih.gov)
NS is caused by mutations in PTPN11 (12q24.13) seen in 50% of cases, SOS1 (2p22.1) in 15%, RAF1 (3p25.2), RIT1 (1q22) and LZTR1 (22q11.21), and less commonly in other genes associated with the RAS/MAPK signaling pathway. (orpha.net)
Mutations in a several genes (PTPN11, KRAS, SOS1, NF1 and RAF1) have been associated the the NS phenotype. (jefferson.edu)
Approximately 50% of patients have gene mutations in PTPN11 , with SOS1 and RAF1 mutations identified in another 13% and 5-17% of patients, respectively. (medscape.com)
HRAS alterations were detected in only 2 out of 19 patients referred with a Costello syndrome suspicion, whereas pathogenic variants in RAF1 and SHOC2 were detected in 3 and 2, respectively. (bvsalud.org)
In 22 patients referred with a generic suspicion of RASopathy, including cardiofaciocutaneous syndrome, pathogenic alterations in classic Noonan syndrome genes (PTPN11, SOS1, RAF1, LZTR1, and RIT1) were found in 7 patients and pathogenic variants in genes associated with other RASopathies (HRAS, SHOC2, and PPPCB1) in 4. (bvsalud.org)
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. (ny.gov)

Noonan syndrome has also been shown to be caused by mutations in KRAS and PTPN11 genes. (wikipedia.org)
More than 90 mutations causing Noonan syndrome have been identified in the PTPN11 gene. (nih.gov)
We examined: (1) How Ras-MAPK activating variants of PTPN11/SOS1 protein-coding genes affect brain anatomy. (stanford.edu)
2) The relationship between PTPN11 gene expression levels and brain anatomy, and (3) The relevance of subcortical anatomy to attention and memory skills affected in the RASopathies. (stanford.edu)
We collected structural brain MRI and cognitive-behavioral data from 40 pre-pubertal children with Noonan syndrome (NS), caused by PTPN11 (n = 30) or SOS1 (n = 10) variants (age 8.53 ± 2.15, 25 females), and compared them to 40 age- and sex-matched typically developing controls (9.24 ± 1.62, 27 females). (stanford.edu)
Further, SA effects were associated with increasing PTPN11 gene expression, most prominently in the temporal lobe. (stanford.edu)
We provide evidence for the effects of Ras-MAPK pathogenic variants on striatal and cortical anatomy as well as links between PTPN11 gene expression and cortical SA increases, and striatal volume and inhibition skills. (stanford.edu)
Germline activating mutations to the PTPN11 gene cause overactivation of the Ras-Mitogen-Activated Protein Kinase pathway. (stanford.edu)
PTPN11 mutations are the only genetic abnormalities reported so far in some patients with NL/MGCLS and in one individual with LEOPARD syndrome and MGCL. (unifesp.br)
in a cohort of 75 NS patients previously tested negative for mutations in PTPN11 and KRAS, we detected SOS1 mutations in 11 individuals, four of whom had MGCL. (unifesp.br)
LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. (jefferson.edu)
Noonan syndrome (NS) is caused by mutations in PTPN11 , a gene encoding the nonreceptor protein tyrosine phosphatase SHP2. (lu.se)
1999 ]. Germline mutations in PTPN11 lead to Noonan syndrome associated with JMML, and somatic PTPN11 mutations are associated with isolated JMML [Tartaglia et al. (lu.se)
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. (medscape.com)
The aim of this study was to learn about the molecular base of a large cohort of patients with RASopathies, with particular emphasis on patients with pathogenic variants in genes other than PTPN11, and its potential impact on rGH treatment indication. (bvsalud.org)
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations. (cdc.gov)

Subjects carrying a pathogenetic variant in SOS1 gene tend to exhibit a distinctive phenotype that is characterized by ectodermal abnormalities. (biomedcentral.com)
we report two cases of newborns with CVG and phenotype suggestive for NS who have been diagnosed to harbour the same pathogenetic variant in SOS1 gene. (biomedcentral.com)
Several additional genes associated with a Noonan syndrome-like phenotype in fewer than ten individuals have been identified. (nih.gov)
10 13 To date, only five studies have systematically evaluated the prenatal phenotype of Noonan syndrome. (bmj.com)
To explore further the relevance of aberrant RAS-MAPK signaling in syndromic MGCL, we analyzed the established genes causing CFCS in three subjects with MGCL associated with a phenotype fitting CFCS. (unifesp.br)
The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. (jefferson.edu)
Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients. (cdc.gov)
Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile. (cdc.gov)
Noonan syndrome-like phenotype in a patient with heterozygous ERF truncating variant. (cdc.gov)
The responsible mutations lie in ARSB (5q11-q13), the gene that encodes the enzyme arylsulfatase B. The phenotype results from defective dermatan sulfate breakdown with lysosomal accumulation. (arizona.edu)

2001]. Another forms of Noonan syndrome are caused by mutations in the KRAS [Schubbert et al. (lu.se)
Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome. (univ-paris5.fr)

Notably, SOS2 variants were identified in patients with marked ectodermal involvement, similar to patients with SOS1 mutations. (nih.gov)
We identified two novel genes, SOS2 and LZTR1, associated with Noonan syndrome, thereby expanding the molecular spectrum of RASopathies. (nih.gov)
While SOS2 is a natural candidate, because of its homology with SOS1, the functional role of LZTR1 in the RAS/MAPK pathway is not known, and it could not have been identified without the large pedigrees. (nih.gov)
Mammals possess two SOS paralogues: SOS1 and SOS2. (bionity.com)
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications. (cdc.gov)
Activating mutations affecting the Dbl homology domain of SOS2 cause Noonan syndrome. (uniroma2.it)

SOS1 is a guanine nucleotide exchange factor (GEF) which interacts with RAS proteins to phosphorylate GDP into GTP, or from an inactive state to an active state to signal cell proliferation. (wikipedia.org)
In cell signalling , Son of Sevenless , or SOS , is a gene encoding a guanine nucleotide exchange factor that acts on Ras - GTPases . (bionity.com)

Noonan and Noonan-like syndromes are multisystem genetic disorders, mainly with autosomal dominant trasmission, caused by mutations in several genes. (biomedcentral.com)
Noonan syndrome is an autosomal dominant, multisystemic disorder caused by dysregulation of the RAS/mitogen activated protein kinase (MAPK) pathway. (nih.gov)
ZAP-70 deficiency is a rare autosomal recessive form of severe combined immunodeficiency (SCID) caused by mutations in the gene coding for T cell receptor z-chain associated protein kinase [ Chan et al. (lu.se)
Costello syndrome is an autosomal dominant disorder. (forgottendiseases.org)
Noonan syndrome occurs in either a sporadic or autosomal dominant fashion. (medscape.com)

Some of the characteristic features of Noonan syndrome include a large head with excess skin on the back of the neck, low hairline at the nape of the neck, high hairline at the front of the head, triangular face shape, broad forehead, and a short, webbed neck. (handwiki.org)

Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. (medscape.com)

Missense pathogenetic variants of SOS1 gene are the second most common cause of Noonan syndrome (NS) and account approximately for 13% to 17% of cases. (biomedcentral.com)
Heterozygous, pathogenic variants in 11 known genes account for approximately 80% of cases. (nih.gov)
A cohort of 50 Brazilian probands negative for pathogenic variants in the known genes associated with Noonan syndrome was tested through whole-exome sequencing along with the relatives in the familial cases. (nih.gov)
Novel effects of Ras-MAPK pathogenic variants on the developing human brain and their link to gene expression and inhibition abilities. (stanford.edu)
The RASopathies are genetic syndromes associated with pathogenic variants causing dysregulation of the Ras/mitogen-activated protein kinase (Ras-MAPK) pathway, essential for brain development, and increased risk for neurodevelopmental disorders. (stanford.edu)
In this way these mutations are thought to create SOS1 alleles encoding hyper-activated and dysregulated variants of the protein. (bionity.com)
Next Generation Sequencing was conducted to find out the potential causative gene variants in all patients. (biomedcentral.com)
The spectrum of genes harboring germline variants in pediatric MDS has also recently begun to expand beyond transcription factors, including ANKRD26 17 and SRP72 18 . (nature.com)

Costello syndrome is a member of a group of conditions called RASopathies . (forgottendiseases.org)
As an example, people with Costello syndrome have an increased risk for a type of cancer called rhabodmyosarcoma, which tends to form in muscles that attach to bones (1, 2). (forgottendiseases.org)
Other forms of cancer associated with Costello syndrome include neuroblastoma, which is a cancer that develops in nerve tissue formed very early in development (before birth). (forgottendiseases.org)
According to one review, the lifetime cancer risk for people with Costello syndrome is 15% (2). (forgottendiseases.org)
Costello syndrome affects many body systems, and patients typically have intellectual disability and loose skin. (forgottendiseases.org)
Roughly two-thirds of people with Costello syndrome also have heart problems (see list below), and close to half have benign/non-cancerous tumors, including papillomas. (forgottendiseases.org)
Costello syndrome generally results from spontaneous mutations in a gene called HRAS . (forgottendiseases.org)
A diagnosis of Costello syndrome is suspected based on clinical findings, including those listed on this page. (forgottendiseases.org)
If you suspect that your child has Costello syndrome, check with your family physician, who will compare your child's signs and symptoms with those known to occur in Costello syndrome. (forgottendiseases.org)
If your child's doctor isn't familiar with Costello syndrome, the information from Costello Kids may help. (forgottendiseases.org)
Distinguishing them from Costello syndrome may not be easy in young children, but the differences between the three syndromes become more obvious as children age. (forgottendiseases.org)
Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D. (univ-paris5.fr)
Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val. (univ-paris5.fr)
Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations. (univ-paris5.fr)

Noonan syndrome (NS) and cardio-facio-cutaneous syndrome (CFCS) are related developmental disorders caused by mutations in genes encoding various components of the RAS-MAPK signaling cascade. (unifesp.br)
RASopathies are caused by mutations in genes that have roles in a pathway called Ras-MAPK . (forgottendiseases.org)
The pathophysiology of Noonan syndrome is not fully understood but is associated with mutations in genes that are part of the RAS/RAF/MEK/ERK signal transduction pathway, an important regulator of cell growth. (medscape.com)
Multiple large cohort studies of adult MDS patients found recurrent mutations in genes important in epigenetic regulation (e.g. (nature.com)

Other RASopathies include Noonan syndrome , Noonan syndrome with multiple lentigines (formally LEOPARD syndrome), neurofibromatosis type 1, cardio-facio-cutaneous (CFC) syndrome, and Legius syndrome. (forgottendiseases.org)
Treatment with recombinant human growth hormone is approved in Noonan syndrome but not in the other RASopathies. (bvsalud.org)
A Brief video on Bruce Gelb and his interest in RASopathies research, particularly Noonan syndrome. (rasopathiesnet.org)

Additional functional studies are needed to elucidate the role of LZTR1 in RAS/MAPK signalling and in the pathogenesis of Noonan syndrome. (nih.gov)

Cardiac transplantation in children with Noonan syndrome. (jefferson.edu)

Son of sevenless homolog 1 is a protein that in humans is encoded by the SOS1 gene. (wikipedia.org)

In genetic terms we knew Noonan Syndrome was inherited in families but didn't know which of the 23 chromosomes it might be on. (noonansyndrome.org.uk)
Noonan syndrome ( NS ) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. (handwiki.org)
A number of genetic mutations can result in Noonan syndrome. (handwiki.org)
In the current work, we used well-known methods (ToppGene and Endeavour), as well as methods previously developed by us, to prioritize genes involved in endothelial apoptosis and to find potential participants of molecular-genetic mechanisms of lymphedema among them. (biomedcentral.com)

Therefore it is thought that dysregulation of this pathway during development is responsible for many of the clinical features of this syndrome [6] . (bionity.com)
I proposed having a clinical research fellow to examine all the UK families to define the clinical features and to find the gene. (noonansyndrome.org.uk)
We contacted all the paediatricians and geneticists in the UK to identify the families with Noonan syndrome and over the next 2 years brought them up to St Georges for a day where we did heart scans and blood samples as well as documenting all the clinical features. (noonansyndrome.org.uk)
These patients were previously thought to have a form of Turner syndrome , with which Noonan syndrome shares numerous clinical features. (medscape.com)
Noonan syndrome: clinical features, diagnosis, and management guidelines. (medscape.com)

Cohort 1 included 231 samples that were sequenced for 1-5 rasopathy genes. (bmj.com)
7-12 It has been previously estimated that mutations in the rasopathy genes are found in 6.7%-19% of fetuses with increased NT and additional anomalies on ultrasound. (bmj.com)
The NF1 gene has been included in the Rasopathy gene panel recently. (radboudumc.nl)
A new online study by Paige Naylor, doctoral candidate at Palo Alto University in California, is recruiting families who has a child with any RASopathy syndrome between the ages of 8-18, and who can communicate in English. (rasopathiesnet.org)
[3] [1] Noonan syndrome is a type of RASopathy , the underlying mechanism for which involves attenuation of the RAS/MAPK cell signaling pathway. (handwiki.org)

We show that Ras/MAPK pathway mutations are common in pediatric primary MDS (45%) while mutations in RNA splicing genes are rare (2%), and that germline SAMD9/SAMD9L mutations are present in 17% of primary MDS patients. (nature.com)

Noonan syndrome (MIM: 163950) is characterised by postnatal short stature, distinctive facial features, congenital heart defects, variable degree of developmental delay and other structural abnormalities. (bmj.com)
Abnormalities in the limbs and extremities may occur in Noonan syndrome. (handwiki.org)

Noonan syndrome is linked to defects in several genes. (nih.gov)

Although the syndrome had been described by a paediatric cardiologist Dr Jacqueline Noonan in 1963 not much was known about the syndrome outside the cardiac features she had described. (noonansyndrome.org.uk)
[2] The condition was first described in 1883 and was named after American pediatric cardiologist Jacqueline Noonan, who described further cases in 1963. (handwiki.org)

Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome ) is a condition that affects many areas of the body. (nih.gov)
Noonan syndrome with multiple lentigines (NSML) is a rare inherited disorder. (nih.gov)

The diagnosis can be confirmed by testing for mutations in the gene HRAS . (forgottendiseases.org)
Methylation pattern of oncogene HRAS gene promoter region and its clinical relevance to urocystic tumorigenesis. (univ-paris5.fr)

A common feature of these genes is that their products have all been strongly implicated as positive regulators of the Ras/ MAP kinase signal transduction pathway. (bionity.com)
STAT5B acts as a part of the growth hormone signalling pathway leading to stimulation of insulin-like growth factor I (IGF-I) gene transcription [Woelfle et al. (lu.se)
like Noonan syndrome, all of these cancers are associated with RAS signaling pathway mutations. (medscape.com)
Our data show that, in contrast to adult MDS, Ras/MAPK pathway mutations are common in pediatric MDS (45% of primary cohort), while mutations in RNA splicing genes are rare (2% of primary cohort). (nature.com)

This disorder has been described in association with other congenital anomalies such as Noonan syndrome , de Lange syndrome , and Rubinstein-Taybi syndrome . (medscape.com)

JMML is a myelodysplastic syndrome that constitutes approximately 30% of childhood cases of myelodysplastic syndrome (MDS) and 2% of leukaemia [ Hasle et al. (lu.se)
Myelodysplastic syndromes (MDS) are uncommon in children and have a poor prognosis. (nature.com)

Recent studies also show that mutations in Sos1 can cause Noonan syndrome and hereditary gingival fibromatosis type 1. (wikipedia.org)
Dominant mutant alleles of SOS1 have recently been found to cause Noonan syndrome [3] and Hereditary Gingival Fibromatosis type 1 [4] . (bionity.com)

Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. (nih.gov)

However, this disorder may be the first sign of Noonan syndrome, which is important to recognize owing to its cardiovascular defects. (medscape.com)
The clinical spectrum of NS may differ slightly between causative genes, and some forms have been described as ''Noonan like'' (NS-like disorder with juvenile myelomonocytic leukemia and NS-like disorder with loose anagen hair). (orpha.net)
Activating mutations cause Noonan syndrome (NS), a developmental disorder associated with hyperactivity and cognitive weakness in attention, executive function, and memory. (stanford.edu)
This term means that only one copy of a mutated gene is needed to cause the disorder. (forgottendiseases.org)
[ 2 ] Juvenile myelomonocytic leukemia and myeloproliferative disorder have also been associated with Noonan syndrome. (medscape.com)

Juvenile xanthogranuloma in Noonan syndrome. (cdc.gov)

Cohort 2 included 193 samples that were analysed with a 14-gene next generation sequencing (NGS) panel. (bmj.com)
Nowadays with routine gene sequencing it is difficult to explain what the challenge of finding the gene for Noonan Syndrome was. (noonansyndrome.org.uk)
Diaphanospondylodysostosis via BMPER Gene Sequencing with CNV Detection. (mendelian.co)

Mutations in the PIK3R1 gene encoding phosphatidylinositol 3-kinase (PI3-kinase) have been found to cause severe insulin resistance [Baynes et al. (lu.se)
15 business days This test is designed for prenatal anomalies, newborn or early childhood (severe/life-threatening) conditions or conditions in need of gene specific treatment options. (radboudumc.nl)
Through combined simulative and fluorescence studies, he contributed to define the structural and functional effects of mutations causing several severe pathologies, including developmental syndromes (Noonan, Leopard, Ayme-Gripp, Myhre, Zimmerman-Laband, and Primrose syndromes), some forms of leukemia and of kidney disease. (uniroma2.it)

It is believed that developmental defects and the resulting dysfunction of the lymphatic system are the cause of primary lymphedema, as well as associated syndromes, and can be genetically determined [ 5 ]. (biomedcentral.com)

In Drosophila, the protein encoded by the 'son of sevenless' gene (Sos) contains a domain that shows sequence similarity with the catalytic domain of Cdc25. (wikipedia.org)
This may be explained because the SOS1 protein adopts an auto-inhibited conformation dependent on multiple domain-to-domain interactions that cooperate to block access of the SOS1 catalytic core to its Ras-GTPase targets [7] . (bionity.com)
The gene affected encodes a SH2D1A protein consisting only of a SH2 domain and a short C-terminal tail [Sayos et al. (lu.se)

Generation of an iPSC cohort of isogenic iPSC lines (46-XY and 47-XXY) from a non-mosaic Klinefelter Syndrome patient (47-XXY) (KAUSTi008-A, KAUSTi008-B, KAUSTi008-C, KAUSTi008-D, KAUSTi008-E, KAUSTi008-F, KAUSTi008-G). (reprocell.com)

Noonan syndrome was first recognized as a unique entity in 1963 when Noonan and Ehmke described a series of patients with unusual facies and multiple malformations, including congenital heart disease. (medscape.com)

Approximately 25% of individuals with Noonan syndrome have mental retardation . (medscape.com)

The incidence of Noonan syndrome is estimated to be 1 case per 1000 to 1 case per 2500 live births. (medscape.com)

Possible molecular defects are mentioned in ulerythema ophryogenes associated with more serious conditions such as Cornelia de Lange syndrome or Noonan syndrome, such as a deletion of the short arm of chromosome 18p caused by Y/18 translocation. (medscape.com)

At the time I started there were only about 20 disease genes discovered so it was like knowing you were looking for an undiscovered town with a world map with the continents in place and only 20 towns on the whole map of the world. (noonansyndrome.org.uk)
The primary source of morbidity and mortality in patients with Noonan syndrome depends on the presence and type of congenital heart disease. (medscape.com)
Snijders Blok-Campeau syndrome (SNIBCPS, OMIM# 618205) is an extremely infrequent disease with only approximately 60 cases reported so far. (bvsalud.org)
Skin signs and symptoms in Noonan syndrome include lymphedema (lymph swelling of the extremities), keloid formation, excessive scar formation, hyperkeratosis (overdevelopment of outer skin layer), pigmented nevi (darkly pigmented skin spots), and connective tissue disease. (handwiki.org)
Analysis of interactions of these genes in the associative gene network of lymphedema can improve understanding of mechanisms of interaction between endothelial apoptosis and lymphangiogenesis, and shed light on the role of disturbance of these processes in the development of edema, chronic inflammation and connective tissue transformation during the progression of the disease. (biomedcentral.com)

Modeling gene × environment interactions in PTSD using human neurons reveals diagnosis-specific glucocorticoid-induced gene expression. (reprocell.com)
Author and journalist Olivia Gordon, has written a moving book about her son's diagnosis with Noonan Syndrome, and it's now published in the United States. (rasopathiesnet.org)
The most common signs leading to the diagnosis of Noonan syndrome are unique facial characteristics and musculoskeletal features. (handwiki.org)

Heterozygous mutations in the same gene have been identified in 3 patients with nevus comedonicus ( 617025 ). (arizona.edu)

Although the tumor risk in patients with related SOS1 NS was previously considered lower than in other forms linked to other genes, over the years a significant incidence of some solid tumors has been reported in these patients including embryonal rhabdomyosarcoma, Sertoli cell testis tumor, granular cell tumors of the skin and mandibular multiple giant cell lesions (MGCLs). (biomedcentral.com)
Noonan-like/multiple giant cell lesion syndrome in two adult patients with SOS1 gene mutations. (mpg.de)
Mutations in these genes are responsible for approximately 3% of all patients with Noonan syndrome. (nih.gov)
One of my first patients was James Lewis who had Noonan syndrome and whose father Leonard was running Chelsea Girl which his now known as River Island. (noonansyndrome.org.uk)
The observation that patients with Noonan syndrome have normal karyotypes was important in allowing the distinction to be made between the Turner and Noonan syndromes. (medscape.com)
Bleeding diathesis is present in as many as half of all patients with Noonan syndrome. (medscape.com)
A study by Jongmans et al also demonstrated an elevated cancer risk in patients with Noonan syndrome. (medscape.com)
Growth patterns of patients with Noonan syndrome: correlation with age and genotype. (medscape.com)

Noonan Syndrome: Common Molecular Alterations and the Consequences. (cdc.gov)

A molecular defect has so far not been elucidated, but certain clues are emerging as ulerythema appears as a trait in different syndromes. (medscape.com)

The facial characteristics are most prominent in infancy, becoming less apparent with age in many people with Noonan syndrome. (handwiki.org)

However, a study of the relationship between genes associated with lymphedema and genes involved in endothelial apoptosis, in the associative gene network was not previously conducted. (biomedcentral.com)
Original methods of prioritization took into account the overrepresented Gene Ontology biological processes, the centrality of vertices in the associative gene network, describing the interactions of endothelial apoptosis genes with genes associated with lymphedema, and the association of the analyzed genes with diseases that are comorbid to lymphedema. (biomedcentral.com)
An assessment of the quality of prioritization was performed using criteria, which involved an analysis of the enrichment of the top-most priority genes by genes, which are known to have simultaneous interactions with lymphedema and endothelial cell apoptosis, as well as by genes differentially expressed in murine model of lymphedema. (biomedcentral.com)
The identified priority genes can be considered as candidates for genotyping in the studies involving the search for associations with lymphedema. (biomedcentral.com)

In 2019, the first SOS1 inhibitor, BAY-293, was published which met the quality criteria for a 'Donated Chemical Probe' as defined by the Structural Genomics Consortium. (wikipedia.org)

Pancreatic Differentiation of Stem Cells Reveals Pathogenesis of a Syndrome of Ketosis-Prone Diabetes. (reprocell.com)

Anatomy1

Diseases18

Chemicals and Drugs5

Analytical, Diagnostic and Therapeutic Techniques and Equipment2

Phenomena and Processes5

RAF18

PTPN1116

Phenotype10

KRAS2

SOS26

Guanine nucleo2

Autosomal5

Features of Noonan syndrome include1

Cardiofaciocutaneous1

Variants8

Costello14

Mutations in genes4

Rasopathies3

LZTR11

Children with Noonan syndrome1

Sevenless homolog1

Genetic4

Clinical features5

Rasopathy5

Germline1

Abnormalities2

Several genes1

Jacqueline Noonan2

Multiple lentigines2

HRAS2

Pathway4

Congenital anomalies1

Myelodysplastic2

Hereditary2

Short stature1

Disorder5

Juvenile1

Sequencing3

Severe3

Developmental1

Protein3

Cohort1

19631

Mental retardation1

Live births1

Defects1

Disease5

Diagnosis3

Heterozygous1

Patients8

Alterations1

Molecular1

Characteristics1

Lymphedema4

20191

Pathogenesis1