Prominent publications by Maximilian Muenke

KOL Index score: 13904

Runx2 (runt-related transcription factor 2, also known as Cbfa1, Osf2 and AML3) is essential for bone development in mice, and mutations in RUNX2 are found in 65–80% of individuals with cleidocranial dysplasia1,2. Although all Runx family members can interact with Cbfβ (core-binding factor b, encoded by Cbfb), a role for Cbfβ in bone development has not been demonstrated owing to lethality in Cbfb−/− mouse embryos at 12.5 days post coitum (d.p.c.) from hemorrhages and lack of definitive ...

Also Ranks for: Bone Development |  runx2 cbfb |  binding factor |  proteins mice |  chondrocyte differentiation
KOL Index score: 13820

Holoprosencephaly (HPE) is the most common structural defect of the developing forebrain in humans (1 in 250 conceptuses, 1 in 16,000 live-born infants1,2,3). HPE is aetiologically heterogeneous, with both environmental and genetic causes4,5. So far, three human HPE genes are known: SHH at chromosome region 7q36 (ref. 6); ZIC2 at 13q32 (ref. 7); and SIX3 at 2p21 (ref. 8). In animal models, genes in the Nodal signalling pathway, such as those mutated in the zebrafish mutants cyclops (refs ...

Also Ranks for: Tgif Hpe |  human pair |  nodal signalling |  homeodomain protein |  dna binding
KOL Index score: 13217

Holoprosencephaly (HPE) is a condition characterized by a defect in the development of the midline embryonic forebrain. When detected prenatally, the diagnosis of HPE offers parents a poor but often uncertain prognosis. Since the majority of parents receiving a prenatal diagnosis of an abnormality terminate their pregnancies, few studies have examined parents' experiences and needs surrounding the decision to continue a pregnancy. We present a descriptive study of in-depth interviews ...

Also Ranks for: Prenatal Diagnosis |  parents decision |  holoprosencephaly hpe |  health professionals |  continue pregnancy
KOL Index score: 13145

It has been known for several years that heterozygous mutations of three members of the fibroblast growth-factor-receptor family of signal-transduction molecules-namely, FGFR1, FGFR2, and FGFR3-contribute significantly to disorders of bone patterning and growth. FGFR3 mutations, which predominantly cause short-limbed bone dysplasia, occur in all three major regions (i.e., extracellular, transmembrane, and intracellular) of the protein. By contrast, most mutations described in FGFR2 ...

Also Ranks for: Syndromic Craniosynostosis |  fibroblast growth |  fgfr2 mutations |  receptor 2 |  genomic screening
KOL Index score: 11970

Holoprosencephaly (HPE) is a common developmental anomaly of the human forebrain and midface where the cerebral hemispheres fail to separate into distinct left and right halves. We have previously reported haploinsufficiency for Sonic Hedgehog ( SHH ) as a cause for HPE. We have now performed mutational analysis of the complete coding region and intron-exon junctions of the SHH gene in 344 unrelated affected individuals. Herein, we describe 13 additional unrelated affected individuals ...

Also Ranks for: Sonic Hedgehog |  mutational spectrum |  shh mutations |  holoprosencephaly hpe |  insertional mutation
KOL Index score: 11825

Abnormalities of embryonic patterning are hypothesized to underlie many common congenital malformations in humans including congenital heart defects (CHDs), left-right disturbances (L-R) or laterality, and holoprosencephaly (HPE). Studies in model organisms suggest that Nodal-like factors provide instructions for key aspects of body axis and germ layer patterning; however, the complex genetics of pathogenic gene variant(s) in humans are poorly understood. Here we report our studies of ...

Also Ranks for: Nodal Signaling |  heart defects |  model organisms |  holoprosencephaly hpe |  mutational analysis
KOL Index score: 11272

BACKGROUND: Holoprosencephaly (HPE), the most common malformation of the human forebrain, may be due to mutations in genes associated with non-syndromic HPE. Mutations in ZIC2, located on chromosome 13q32, are a common cause of non-syndromic, non-chromosomal HPE.

OBJECTIVE: To characterise genetic and clinical findings in patients with ZIC2 mutations.

METHODS: Through the National Institutes of Health and collaborating centres, DNA from approximately 1200 individuals with HPE spectrum ...

Also Ranks for: Mutations Zic2 |  human holoprosencephaly |  patients hpe |  specific phenotype |  common malformation
KOL Index score: 10864

Pfeiffer syndrome (PS; McKusick MIM 101600) is an autosomal dominant craniosynostosis syndrome with characteristic craniofacial anomalies and broad thumbs and big toes1,2. We have previously demonstrated genetic heterogeneity in PS and mapped a gene to chromosome 8 (ref. 3) and a second to chromosome 10 (ref. 4). The gene on chromosome 8 is the fibroblast growth factor receptor 1 (FGFR1) with a common mutation (C755G) predicting a Pro252Arg substitution5. The gene on chromosome 10 is ...

Also Ranks for: Fibroblast Growth Factor |  craniosynostosis syndromes |  type 2 receptors |  identical mutations |  receptor genes
KOL Index score: 10803

AIM: Difficulties in neurocognition and social interaction are the most prominent causes of morbidity and long-term disability in children with neurofibromatosis type 1 (NF1). Symptoms of attention-deficit-hyperactivity disorder (ADHD) have also been extensively recognized in NF1. However, systematic evaluation of symptoms of autism spectrum disorder (ASD) in children with NF1 has been limited.

METHOD: We present a retrospective, cross-sectional study of the prevalence of symptoms of ASD ...

Also Ranks for: Neurofibromatosis Type |  adhd asd |  children nf1 |  autism spectrum disorder |  social responsiveness scale
KOL Index score: 10803

Muenke syndrome is an autosomal dominant disorder characterized by coronal suture craniosynostosis, hearing loss, developmental delay, carpal and tarsal fusions, and the presence of the Pro250Arg mutation in the FGFR3 gene. Reduced penetrance and variable expressivity contribute to the wide spectrum of clinical findings in Muenke syndrome. To better define the clinical features of this syndrome, we initiated a study of the natural history of Muenke syndrome. To date, we have conducted a ...

Also Ranks for: Muenke Syndrome |  pro250arg mutation |  fibroblast growth factor |  hearing loss |  clinical findings
KOL Index score: 10627

The secreted protein sonic hedgehog (Shh) plays an integral role in forming the ventral midline of the vertebrate central nervous system (CNS). In the absence of Shh function, ventral midline development is perturbed resulting in holoprosencephaly (HPE), a structural malformation of the brain, as well as in neuronal patterning and path finding defects along the length of the anteroposterior neuraxis. Central to the understanding of ventral neural tube development is how Shh transcription ...

Also Ranks for: Ventral Forebrain |  regulatory elements |  shh expression |  1 mb |  sonic hedgehog
KOL Index score: 10454

Attention-deficit/hyperactivity disorder (ADHD [MIM 143465]) is the most common behavioral disorder of childhood. Twin, adoption, segregation, association, and linkage studies have confirmed that genetics plays a major role in conferring susceptibility to ADHD. We applied model-based and model-free linkage analyses, as well as the pedigree disequilibrium test, to the results of a genomewide scan of extended and multigenerational families with ADHD from a genetic isolate. In these ...

Also Ranks for: Population Isolate |  chromosomes human |  hyperactivity disorder |  linkage loci |  lod score

Key People For Muenke Syndrome

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Maximilian ******
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Andrew * * ******
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Donna * ***************
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John ****** ********
cleft lip hemifacial microsomia vascular anomalies
Scott **** * ********
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Maximilian Muenke:Expert Impact

Concepts for whichMaximilian Muenkehas direct influence:Muenke syndrome,  Fibroblast growth factor,  Holoprosencephaly hpe,  Sonic hedgehog,  Diverse populations,  Vacterl association,  Human holoprosencephaly,  Holoprosencephaly humans.

Maximilian Muenke:KOL impact

Concepts related to the work of other authors for whichfor which Maximilian Muenke has influence:Fibroblast growth factor,  Sonic hedgehog,  Gene expression,  Situ hybridization,  Human pair,  Hyperactivity disorder,  Prenatal diagnosis.



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National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA | Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda (A.F.M., B.O., C.T.-N., Y.A.A., M.M., P.K.).