| case report | Q2782326 |
| scholarly article | Q13442814 |
| P356 | DOI | 10.1016/J.AJHG.2013.10.023 |
| P8608 | Fatcat ID | release_rjngdvanqfatzepqto4f2t4erq |
| P932 | PMC publication ID | 3853412 |
| P698 | PubMed publication ID | 24268655 |
| P5875 | ResearchGate publication ID | 258852623 |
| P50 | author | Arnold Munnich | Q2863363 |
| Stanislas Lyonnet | Q7598948 | ||
| Christine Bôle-Feysot | Q28354378 | ||
| Christopher T Gordon | Q37382671 | ||
| Jeanne Amiel | Q42811006 | ||
| Patrick Nitschké | Q45929076 | ||
| Roseli Maria Zechi-Ceide | Q47087856 | ||
| Frédéric Tores | Q47262125 | ||
| Nancy Mizue Kokitsu-Nakata | Q51949388 | ||
| Florence Petit | Q56775674 | ||
| Maria Leine Guion-Almeida | Q85759050 | ||
| Siulan Vendramini-Pittoli | Q85759452 | ||
| Peter Kroisel | Q89998496 | ||
| Philippe Pellerin | Q96110802 | ||
| Cécile Masson | Q117252647 | ||
| Myriam Oufadem | Q117252654 | ||
| Linda Jakobsen | Q117252656 | ||
| Solenn Pruvost | Q117252657 | ||
| Pernille Lindholm | Q117252658 | ||
| Muriel Holder-Espinasse | Q117252659 | ||
| P2093 | author name string | Patrick Nitschké | |
| Frédéric Tores | |||
| Thierry Hieu | |||
| P2860 | cites work | Furin: a mammalian subtilisin/Kex2p-like endoprotease involved in processing of a wide variety of precursor proteins | Q24530571 |
| Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia | Q24631099 | ||
| Fast and accurate short read alignment with Burrows-Wheeler transform | Q24653853 | ||
| Furin at the cutting edge: from protein traffic to embryogenesis and disease | Q24670432 | ||
| The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data | Q27860742 | ||
| The Sequence Alignment/Map format and SAMtools | Q27860966 | ||
| SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism | Q28218691 | ||
| Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons | Q28243225 | ||
| Ensembl 2013 | Q28280494 | ||
| Aortic arch malformations and ventricular septal defect in mice deficient in endothelin-1 | Q28504748 | ||
| Endothelin-1 regulates the dorsoventral branchial arch patterning in mice | Q28588799 | ||
| Endothelin-A receptor-dependent and -independent signaling pathways in establishing mandibular identity | Q28591036 | ||
| Cranial and cardiac neural crest defects in endothelin-A receptor-deficient mice | Q28591495 | ||
| Elevated blood pressure and craniofacial abnormalities in mice deficient in endothelin-1 | Q28593256 | ||
| Human furin is a calcium-dependent serine endoprotease that recognizes the sequence Arg-X-X-Arg and efficiently cleaves anthrax toxin protective antigen | Q28610305 | ||
| Spatio-temporal dynamics of gene expression of the Edn1-Dlx5/6 pathway during development of the lower jaw | Q29039455 | ||
| Amino acid difference formula to help explain protein evolution | Q29614440 | ||
| A novel potent vasoconstrictor peptide produced by vascular endothelial cells | Q29620540 | ||
| A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome | Q30416401 | ||
| Genetic analysis of an Indian family with members affected with Waardenburg syndrome and Duchenne muscular dystrophy | Q36145946 | ||
| An endothelin-1 switch specifies maxillomandibular identity | Q36999856 | ||
| Review and update of mutations causing Waardenburg syndrome. | Q37686450 | ||
| Sequence specificity of furin, a proprotein-processing endoprotease, for the hemagglutinin of a virulent avian influenza virus. | Q40039157 | ||
| Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A. | Q40816214 | ||
| phospholipase C, beta 3 is required for Endothelin1 regulation of pharyngeal arch patterning in zebrafish | Q42721102 | ||
| A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes? | Q43075383 | ||
| Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome | Q45801424 | ||
| sucker encodes a zebrafish Endothelin-1 required for ventral pharyngeal arch development | Q47074020 | ||
| Dual genetic pathways of endothelin-mediated intercellular signaling revealed by targeted disruption of endothelin converting enzyme-1 gene | Q47625987 | ||
| Recombinase-mediated cassette exchange reveals the selective use of Gq/G11-dependent and -independent endothelin 1/endothelin type A receptor signaling in pharyngeal arch development. | Q51967043 | ||
| Cranial neural crest cells on the move: their roles in craniofacial development. | Q55522032 | ||
| Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations | Q57199307 | ||
| Alanine scan of endothelin: Importance of aromatic residues | Q57236445 | ||
| A mouse model of Waardenburg syndrome type IV resulting from an ENU-induced mutation in endothelin 3 | Q57281718 | ||
| Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV | Q58682334 | ||
| A Heterozygous Frameshift Mutation in the Endothelin-3 (EDN-3) Gene in Isolated Hirschsprung's Disease | Q62810438 | ||
| Purification and characterization of furin, a Kex2-like processing endoprotease, produced in Chinese hamster ovary cells | Q68236601 | ||
| Auriculo-condylar syndrome: additional patients | Q74818189 | ||
| Identification of amino acid residues in the C-terminal tail of big endothelin-1 involved in processing to endothelin-1 | Q77655842 | ||
| Quantitative characterization of furin specificity. Energetics of substrate discrimination using an internally consistent set of hexapeptidyl methylcoumarinamides | Q78101739 | ||
| Syndromes of the first and second pharyngeal arches: A review | Q84244545 | ||
| Perturbation of the consensus activation site of endothelin-3 leads to Waardenburg syndrome type IV | Q84488395 | ||
| P433 | issue | 6 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | auriculocondylar syndrome | Q106916361 |
| P304 | page(s) | 1118-1125 | |
| P577 | publication date | 2013-11-21 | |
| P1433 | published in | American Journal of Human Genetics | Q4744249 |
| P1476 | title | Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears | |
| P478 | volume | 93 |
| Q34800084 | A mouse splice-site mutant and individuals with atypical chromosome 22q11.2 deletions demonstrate the crucial role for crkl in craniofacial and pharyngeal development. |
| Q37530244 | A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13. |
| Q38942837 | Building and maintaining joints by exquisite local control of cell fate |
| Q60049142 | DCAF7/WDR68 is required for normal levels of DYRK1A and DYRK1B |
| Q36909280 | Dominant-negative Gα subunits are a mechanism of dysregulated heterotrimeric G protein signaling in human disease. |
| Q64097230 | Endothelin receptor Aa regulates proliferation and differentiation of Erb-dependent pigment progenitors in zebrafish |
| Q46239125 | Genome-wide analysis of facial skeletal regionalization in zebrafish. |
| Q90059269 | Loss-of-function of Endothelin receptor type A results in Oro-Oto-Cardiac syndrome |
| Q52429453 | MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. |
| Q64096486 | Muscular dystrophy with arrhythmia caused by loss-of-function mutations in |
| Q50466656 | Mutations in BOREALIN cause thyroid dysgenesis. |
| Q35266382 | Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia |
| Q62937932 | Neural crest contributions to the ear: Implications for congenital hearing disorders |
| Q28088384 | New insights into craniofacial malformations |
| Q91256712 | News from the endothelin-3/EDNRB signaling pathway: Role during enteric nervous system development and involvement in neural crest-associated disorders |
| Q43615322 | Nkx2.5 regulates endothelin converting enzyme-1 during pharyngeal arch patterning. |
| Q36338193 | Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect |
| Q33695075 | Question mark ear deformity-revisited |
| Q56241292 | RPL10mutation segregating in a family with X-linked syndromic Intellectual Disability |
| Q48250910 | Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome. |
| Q53139422 | Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation. |
| Q33685734 | Role of GATA binding protein 4 (GATA4) in the regulation of tooth development via GNAI3. |
| Q37027898 | Specification of jaw identity by the Hand2 transcription factor |
| Q35394882 | TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone. |
| Q59794946 | TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology |
| Q53412819 | Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome. |
| Q87912339 | The N54-αs Mutant Has Decreased Affinity for βγ and Suggests a Mechanism for Coupling Heterotrimeric G Protein Nucleotide Exchange with Subunit Dissociation |
| Q48215756 | The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function |
| Q31039716 | The old and new face of craniofacial research: How animal models inform human craniofacial genetic and clinical data |
| Q30369032 | Viable Ednra Y129F mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation |
| Q36202520 | Wdr68 Mediates Dorsal and Ventral Patterning Events for Craniofacial Development |
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