The role of connective tissue in craniofacial development, function and disease

Keith, David A.

doi:10.1016/s0300-9785(80)80057-3

Cited by 3 publications

(2 citation statements)

References 63 publications

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“…The ELN gene's protein, elastin, is the most abundant element in elastic fibers, directly influencing smooth muscle cell development, adhesion, and proliferation [Urban et al, 2001, 2002; Kielty, 2006]. Elastin is also found in the ligaments, skin, cartilages of the ear, the epiglottis, larynx, and the muscles of the vocal folds [Keith, 1980; Hahn et al, 2006; Kusuhara et al, 2009; Watts et al, in press]. Elastic fibers play an important role in craniofacial development.…”

Section: Discussionmentioning

confidence: 99%

Auditory function and hearing loss in children and adults with Williams syndrome: Cochlear impairment in individuals with otherwise normal hearing

Marler

Sitcovsky

Mervis

et al. 2010

American J of Med Genetics Pt C

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Hearing loss is common in school-age individuals with Williams syndrome (WS) and extensive in adults. Prior studies with relatively small sample sizes suggest that hearing loss in WS has an early onset and may be progressive, yet the auditory phenotype and the scope of the hearing loss have not been adequately characterized. We used standard audiometric tools: Otoscopy, tympanometry, air-conduction (bone conduction when available) behavioral testing, and distortion product otoacoustic emissions (DPOAEs) to measure hearing sensitivity and outer hair cell function. We tested 81 individuals with WS aged 5.33 to 59.50 years. 63% of the school-age and 92% of the adult participants had mild to moderately-severe hearing loss. The hearing loss in at least 50% was sensorineural. DPOAE testing corroborated behavioral results. Strikingly, 12 of 14 participants with hearing within normal limits bilaterally had 4000-Hz DPOAE input/output (DPOAE IO) functions indicative of outer hair cell damage and impaired cochlear compression. Our results indicate that hearing loss is very common in WS. Furthermore, individuals with WS who have “normal” hearing as defined by behavioral thresholds may actually have sub-clinical impairments or undetected cochlear pathology. Our findings suggest outer hair cell dysfunction in otherwise normal hearing individuals. The DPOAE IO in this same group revealed growth functions typically seen in groups with noise-induced damage. Given this pattern of findings, individuals with WS may be at increased risk of noise-induced hearing loss. Recommendations regarding audiological testing for individuals with WS and accommodations for these individuals in both academic and nonacademic settings are provided.

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Section: Discussionmentioning

confidence: 99%

Auditory function and hearing loss in children and adults with Williams syndrome: Cochlear impairment in individuals with otherwise normal hearing

Marler

Sitcovsky

Mervis

et al. 2010

American J of Med Genetics Pt C

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“…También se han descrito factores intrínsecos que se dan por la interacción de los componentes básicos de células mesenquimales, la matriz extracelular y el epitelio del borde medial. Entre estos factores se encuentra el acortamiento de las fibras elásticas (16,18), la contracción del colágeno sintetizado (19,20) y, por hidratación, la expansión funcional de las matrices (21,22).…”

Section: Introductionunclassified

Expresión de metaloproteinasas en el proceso de palatogénesis: revisión sistemática de la literatura / Expression of Metalloproteinases in Palate Development: Systematic Literature Review

2015

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RESUMEN Antecedentes: el desarrollo del paladar es un evento complejo que requiere la síntesis y la degradación de diferentes componentes de la matriz extracelular, como colágeno tipos I, II y III, fibronectina y ácido hialurónico. Las metaloproteinasas de matriz (MMP) son una familia de proteasas encargadas de la remodelación tisular y su actividad está regulada por sus inhibidores endógenos (TIMP). Diferentes estudios demuestran la participación de MMP y TIMP en la palatogénesis y su relación con la presencia de fisuras oropalatinas. Objetivo: clasificar los diferentes estudios en modelos experimentales y en humanos que evidencien la participación de metaloproteinasas y sus inhibidores en el desarrollo palatino y su relación con patologías como el labio y paladar fisurado. Métodos: se realizó una revisión sistemática de la literatura en las bases bibliográficas PubMed, EMBASE, Web of Science y Cochrane con los términos booleanos palate, development, palatogenesis, matrix metalloproteinases (MMPs), tissue inhibitors of metalloproteinases (TIMPs), extracellular matrix, y cleft and lip palate, para clasificar los diferentes estudios relacionados con la presencia de MMP y TIMP en el paladar y los métodos utilizados para detectar su expresión en el paladar entre 1997 y 2014. Resultados y conclusiones: los estudios en modelos experimentales evidencian la participación de MMP-2, MMP-3, MMP-9, MMP-13, MMP-25, ADAMTS9, y ADAMTS20 y TIMP en diferentes estadios del desarrollo palatino en murinos. Por el contrario, los reportados en humanos son escasos y se han relacionado con polimorfismos en MMP-3 y MMP-25 asociados a presencia de labio y paladar fisurado no sindrómico. PALABRAS CLAVE desarrollo; inhibidores de metaloproteinasas (TIMP); labio y paladar fisurado; matriz extracelular; metaloproteinasas (MMP); paladar; palatogénesis ÁREAS TEMÁTICAS Biología molecular; desarrollo craneofacial ABSTRACT Background: Palate development is a complex event that requires the synthesis and degradation of various components of the extracellular matrix, such as collagen type I, II and III, fibronectin, and hyaluronic acid. Matrix metalloproteinases (MMPs) are a family of proteases responsible for tissue remodeling and its activity is regulated by their endogenous inhibitors (TIMPs). Several studies demonstrate the role of MMPs and TIMPs in palatogenesis and their relationship with cleft and lip palate. Purpose: To classify existing studies with experimental and human models that show the role of metalloproteinases and their inhibitors in palatal development and its relationship to diseases such as cleft lip and palate. Methods: This systematic literature was carried out in the PubMed, EMBASE, Web of Science, and Cochrane databases. The search included Boolean descriptors like palate, development, palatogenesis, matrix metalloproteinases (MMPs), tissue of metalloproteinases (TIMPs), extracellular matrix, and cleft lip and palate, in order to classify the studies related to the presence of MMPs and TIMPs in palate and the methods used t...

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Presence of type III collagen in disc attachments of human temporomandibular joints

Gage

Virdi

Triffitt

et al. 1990

Archives of Oral Biology

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The role of connective tissue in craniofacial development, function and disease

Cited by 3 publications

References 63 publications

Auditory function and hearing loss in children and adults with Williams syndrome: Cochlear impairment in individuals with otherwise normal hearing

Auditory function and hearing loss in children and adults with Williams syndrome: Cochlear impairment in individuals with otherwise normal hearing

Expresión de metaloproteinasas en el proceso de palatogénesis: revisión sistemática de la literatura / Expression of Metalloproteinases in Palate Development: Systematic Literature Review

Presence of type III collagen in disc attachments of human temporomandibular joints

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