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amelogenesis imperfecta

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https://www.readbyqxmd.com/read/27843125/recessive-mutations-in-acpt-encoding-testicular-acid-phosphatase-cause-hypoplastic-amelogenesis-imperfecta
#1
Figen Seymen, Youn Jung Kim, Ye Ji Lee, Jenny Kang, Tak-Heun Kim, Hwajung Choi, Mine Koruyucu, Yelda Kasimoglu, Elif Bahar Tuna, Koray Gencay, Teo Jeon Shin, Hong-Keun Hyun, Young-Jae Kim, Sang-Hoon Lee, Zang Hee Lee, Hong Zhang, Jan C-C Hu, James P Simmer, Eui-Sic Cho, Jung-Wook Kim
Amelogenesis imperfecta (AI) is a heterogeneous group of genetic disorders affecting tooth enamel. The affected enamel can be hypoplastic and/or hypomineralized. In this study, we identified ACPT (testicular acid phosphatase) biallelic mutations causing non-syndromic, generalized hypoplastic autosomal-recessive amelogenesis imperfecta (AI) in individuals from six apparently unrelated Turkish families. Families 1, 4, and 5 were affected by the homozygous ACPT mutation c.713C>T (p.Ser238Leu), family 2 by the homozygous ACPT mutation c...
November 3, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27827380/carriers-with-functional-null-mutations-in-lama3-have-localized-enamel-abnormalities-due-to-haploinsufficiency
#2
Katarzyna B Gostyńska, Wing Yan Yuen, Anna Maria Gerdina Pasmooij, Cornelius Stellingsma, Hendri H Pas, Henny Lemmink, Marcel F Jonkman
The hereditary blistering disease junctional epidermolysis bullosa (JEB) is always accompanied by structural enamel abnormalities of primary and secondary dentition, characterized as amelogenesis imperfecta. Autosomal recessive mutations in LAMA3, LAMB3 and LAMC2 encoding the heterotrimer laminin 332 (LM-332) are among the genes causing JEB. While examining pedigrees of JEB patients with LAMA3 mutations, we observed that heterozygous carriers of functional null mutations displayed subtle enamel pitting in the absence of skin fragility or other JEB symptoms...
November 9, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27814261/noninvasive-esthetic-treatment-for-hypomaturation-amelogenesis-imperfecta-a-case-report
#3
Flávia Pardo Salata Nahsan, Luciana Mendonça da Silva, Thiago Mendes de Lima, Verônica Pereira de Lima Bertocco, Fabíola Mendonça da Silva Chui, Leandro de Moura Martins
Enamel alterations, such as amelogenesis imperfecta, can compromise the harmony of the smile and the patient's self-esteem and may cause tooth sensitivity. A simple and effective treatment approach uses the natural stratification of composite resins to mask deficient enamel formation and mimic the natural appearance of the substrate. The operative steps and principles for restorative success are described in this case report with 36-month follow-up.
November 2016: General Dentistry
https://www.readbyqxmd.com/read/27778394/use-of-new-targeted-cancer-therapies-in-children-effects-on-dental-development-and-risk-of-jaw-osteonecrosis-a-review
#4
Magali Hernandez, Bérengère Phulpin, Ludovic Mansuy, Dominique Droz
New targeted cancer therapies such as bisphosphonates, denosumab and bevacizumab are routinely used in adult for the past decades. Their introduction into pediatric medicine is more recent that means there is a paucity of data on long-term effects on dental development and on the risk of osteonecrosis of jaw. This paper aims to outline adverse effects of new targeted cancer therapies on oral cavity including dental abnormalities observed in pediatric population treated with these molecules and the risk of osteonecrosis of the jaw (ONJ)...
October 25, 2016: Journal of Oral Pathology & Medicine
https://www.readbyqxmd.com/read/27693231/mutations-in-the-ph-sensing-g-protein-coupled-receptor-gpr68-cause-amelogenesis-imperfecta
#5
David A Parry, Claire E L Smith, Walid El-Sayed, James A Poulter, Roger C Shore, Clare V Logan, Chihiro Mogi, Koichi Sato, Fumikazu Okajima, Akihiro Harada, Hong Zhang, Mine Koruyucu, Figen Seymen, Jan C-C Hu, James P Simmer, Mushtaq Ahmed, Hussain Jafri, Colin A Johnson, Chris F Inglehearn, Alan J Mighell
Amelogenesis is the process of dental enamel formation, leading to the deposition of the hardest tissue in the human body. This process requires the intricate regulation of ion transport and controlled changes to the pH of the developing enamel matrix. The means by which the enamel organ regulates pH during amelogenesis is largely unknown. We identified rare homozygous variants in GPR68 in three families with amelogenesis imperfecta, a genetically and phenotypically heterogeneous group of inherited conditions associated with abnormal enamel formation...
October 6, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27667191/non-lethal-raine-syndrome-and-differential-diagnosis
#6
Siham Chafai Elalaoui, Nada Al-Sheqaih, Ilham Ratbi, Jill E Urquhart, James O'Sullivan, Sanjeev Bhaskar, Simon S Williams, Mustapha Elalloussi, Jaber Lyahyai, Leila Sbihi, Imane Cherkaoui Jaouad, Abdelhafid Sbihi, William G Newman, Abdelaziz Sefiani
Raine syndrome is a rare autosomal recessive bone dysplasia characterized by characteristic facial features with exophthalmos and generalized osteosclerosis. Amelogenesis imperfecta, hearing loss, seizures, and intracerebral calcification are apparent in some affected individuals. Originally, Raine syndrome was originally reported as a lethal syndrome. However, recently a milder phenotype, compatible with life, has been described. Biallelic variants inFAM20C, encoding aGolgi casein kinase involved in biomineralisation, have been identified in affected individuals...
September 22, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27633571/severe-early-onset-retinitis-pigmentosa-in-a-moroccan-patient-with-heimler-syndrome-due-to-novel-homozygous-mutation-of-pex1-gene
#7
Ilham Ratbi, Imane Cherkaoui Jaouad, Hamza Elorch, Nada Al-Sheqaih, Mustapha Elalloussi, Jaber Lyahyai, Amina Berraho, William G Newman, Abdelaziz Sefiani
Heimler syndrome (HS) is a rare recessive disorder characterized by sensorineural hearing loss (SNHL), amelogenesis imperfecta, nail abnormalities, and occasional or late-onset retinal pigmentation. It is the mildest form known to date of peroxisome biogenesis disorder caused by hypomorphic mutations of PEX1 and PEX6 genes. We report on a second Moroccan family with Heimler syndrome with early onset, severe visual impairment and important phenotypic overlap with Usher syndrome. The patient carried a novel homozygous missense variant c...
October 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27617510/a-rare-case-epidermolysis-bullosa-in-a-child-patient-with-amelogenesis-imperfecta
#8
H Karayilmaz, Öe Güngör, S Hanimeli, B Yagmur
Epidermolysis bullosa (EB) is an inherited disorder affecting the skin and mucous membranes, characterized by blister formation following minor trauma. It is a chronic mechanobullous disease related to the specific abnormal or absent proteins. The disease is associated with conspicuous clinical and oral manifestations. The oral involvement of EB includes generalized enamel hypoplasia, dental caries, limited mouth opening, ankyloglossia, microstomia and obliteration of the vestibule. Amelogenesis imperfecta (AI) is a hereditary disorder with dental enamel defects and enamel hypoplasia both in deciduous and permanent dentition...
February 26, 2016: West Indian Medical Journal
https://www.readbyqxmd.com/read/27600704/slc13a5-is-the-second-gene-associated-with-kohlsch%C3%A3-tter-t%C3%A3-nz-syndrome
#9
Anna Schossig, Agnès Bloch-Zupan, Adrian Lussi, Nicole I Wolf, Salmo Raskin, Monika Cohen, Fabienne Giuliano, Julie Jurgens, Birgit Krabichler, David A Koolen, Nara Lygia de Macena Sobreira, Elisabeth Maurer, Michèle Muller-Bolla, Johann Penzien, Johannes Zschocke, Ines Kapferer-Seebacher
BACKGROUND: Kohlschütter-Tönz syndrome (KTZS) is a rare autosomal-recessive disease characterised by epileptic encephalopathy, intellectual disability and amelogenesis imperfecta (AI). It is frequently caused by biallelic mutations in ROGDI. Here, we report on individuals with ROGDI-negative KTZS carrying biallelic SLC13A5 mutations. METHODS: In the present cohort study, nine individuals from four families with the clinical diagnosis of KTZS and absence of ROGDI mutations as well as one patient with unexplained epileptic encephalopathy were investigated by clinical and dental evaluation, parametric linkage analysis (one family), and exome and/or Sanger sequencing...
September 6, 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27589272/management-of-amelogenesis-imperfecta-a-15-year-case-history-of-two-siblings
#10
E Dursun, E Savard, C Vargas, L Loison-Robert, H Cherifi, F Bdeoui, M-M Landru
OBJECTIVE: Amelogenesis imperfecta (AI) is a heterogenous genetic disorder that interferes with normal enamel formation in the absence of systemic disorders. The patients' main concerns are caries susceptibility, poor esthetics, and generalized sensitivity. There is a broad clinical spectrum, from discolorations to consequent enamel alterations. This case report describes the 15-year case study and the full-mouth rehabilitation of two siblings affected by a hypocalcified AI. Clinical Considerations: In these two patients, conservative care with stainless steel crowns and direct composite restorations was undertaken to restore function and esthetics and to reduce sensitivities in primary and mixed dentitions...
September 2, 2016: Operative Dentistry
https://www.readbyqxmd.com/read/27558265/amelogenesis-imperfecta-1-family-2-phenotypes-and-2-mutated-genes
#11
M K Prasad, S Laouina, M El Alloussi, H Dollfus, A Bloch-Zupan
Amelogenesis imperfecta (AI) is a clinically and genetically heterogeneous group of diseases characterized by enamel defects. The authors have identified a large consanguineous Moroccan family segregating different clinical subtypes of hypoplastic and hypomineralized AI in different individuals within the family. Using targeted next-generation sequencing, the authors identified a novel heterozygous nonsense mutation in COL17A1 (c.1873C>T, p.R625*) segregating with hypoplastic AI and a novel homozygous 8-bp deletion in C4orf26 (c...
December 2016: Journal of Dental Research
https://www.readbyqxmd.com/read/27550338/amelogenesis-imperfecta-review-of-diagnostic-findings-and-treatment-concepts
#12
Martin M I Sabandal, Edgar Schäfer
Mineralization defects like amelogenesis imperfecta are often of hereditary origin. This article reviews the diagnostic findings and summarizes the suggested treatment approaches. Currently, there are no defined therapy recommendations available for patients suffering from amelogenesis imperfecta. The mentioned therapies are more or less equal but no comprehensive therapy recommendation is evident. When treating patients suffering from amelogenesis imperfecta, a comprehensive therapy of almost every dental discipline has to be considered...
September 2016: Odontology
https://www.readbyqxmd.com/read/27530400/amelogenesis-imperfecta-in-familial-hypomagnesaemia-and-hypercalciuria-with-nephrocalcinosis-caused-by-cldn19-gene-mutations
#13
Paulo Marcio Yamaguti, Francisco de Assis Rocha Neves, Dominique Hotton, Claire Bardet, Muriel de La Dure-Molla, Luiz Claudio Castro, Maria do Carmo Scher, Maristela Estevão Barbosa, Christophe Ditsch, Jean-Christophe Fricain, Renaud de La Faille, Marie-Lucile Figueres, Rosa Vargas-Poussou, Pascal Houiller, Catherine Chaussain, Sylvie Babajko, Ariane Berdal, Ana Carolina Acevedo
BACKGROUND: Amelogenesis imperfecta (AI) is a group of genetic diseases characterised by tooth enamel defects. AI was recently described in patients with familial hypercalciuria and hypomagnesaemia with nephrocalcinosis (FHHNC) caused by CLDN16 mutations. In the kidney, claudin-16 interacts with claudin-19 to control the paracellular passage of calcium and magnesium. FHHNC can be linked to mutations in both genes. Claudin-16 was shown to be expressed during amelogenesis; however, no data are available on claudin-19...
August 16, 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27419834/a-novel-mutation-and-variable-phenotypic-expression-in-a-large-consanguineous-pedigree-with-jalili-syndrome
#14
S Rahimi-Aliabadi, N Daftarian, H Ahmadieh, B Emamalizadeh, J Jamshidi, A Tafakhori, H Ghaedi, R Noroozi, S Taghavi, A Ahmadifard, E Alehabib, M Andarva, P Shokraeian, M Atakhorrami, H Darvish
PurposeJalili syndrome is an autosomal recessive disorder characterized by simultaneous appearance of cone-rod dystrophy (CRD) and amelogenesis imperfecta (AI). Mutations in CNNM4 gene have been identified as the underlying cause of the syndrome. In this study, we investigated a large affected family to identify the causative mutation.Patients and MethodsA seven-generation family with 24 members affected with Jalili syndrome were enrolled in the study. Comprehensive ophthalmologic and dental examinations were performed on them...
July 15, 2016: Eye
https://www.readbyqxmd.com/read/27412008/deletion-of-amelotin-exons-3-6-is-associated-with-amelogenesis-imperfecta
#15
Claire E L Smith, Gina Murillo, Steven J Brookes, James A Poulter, Sandra Silva, Jennifer Kirkham, Chris F Inglehearn, Alan J Mighell
Amelogenesis imperfecta (AI) is a heterogeneous group of genetic conditions that result in defective dental enamel formation. Amelotin (AMTN) is a secreted protein thought to act as a promoter of matrix mineralisation in the final stage of enamel development, and is strongly expressed, almost exclusively, in maturation stage ameloblasts. Amtn overexpression and Amtn knockout mouse models have defective enamel with no other associated phenotypes, highlighting AMTN as an excellent candidate gene for human AI...
July 12, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27383879/scanning-%C3%B0-lectron-%C3%B0-icroscopy-of-%C3%B0-namel-and-dentin-of-%C3%B0-eeth-with-hypocalcified-%C3%B0-melogenesis-imperfecta
#16
Ani B Belcheva, Ivan At Philipov, Georgi T Tomov
UNLABELLED: The histological features of teeth with hypocalcified amelogenesis imperfecta (AI) have been poorly studied, which calls into question the effectiveness of modern adhesive techniques used in the treatment of these noncarious defects. AIM: The aim of this study was to investigate the morphological features of the enamel and dentin of teeth with AI using scanning electron microscopy (SEM), and compare these features with those of healthy teeth. MATERIALS AND METHODS: We examined four primary teeth extracted on indication from a 10-year-old girl with hypocalcified amelogenesis imperfecta...
March 1, 2016: Folia Medica
https://www.readbyqxmd.com/read/27359125/amelogenesis-imperfecta-and-early-restorative-crown-therapy-an-interview-study-with-adolescents-and-young-adults-on-their-experiences
#17
Gunilla Pousette Lundgren, Anette Wickström, Tove Hasselblad, Göran Dahllöf
Patients with Amelogenesis imperfecta (AI) can present with rapid tooth loss or fractures of enamel as well as alterations in enamel thickness, color, and shape; factors that may compromise aesthetic appearance and masticatory function. The aim was to explore the experiences and perceptions of adolescents and young adults living with AI and receiving early prosthetic therapy. Seven patients with severe AI aged 16 to 23 years who underwent porcelain crown therapy participated in one-to-one individual interviews...
2016: PloS One
https://www.readbyqxmd.com/read/27302843/spectrum-of-pex1-and-pex6-variants-in-heimler-syndrome
#18
Claire E L Smith, James A Poulter, Alex V Levin, Jenina E Capasso, Susan Price, Tamar Ben-Yosef, Reuven Sharony, William G Newman, Roger C Shore, Steven J Brookes, Alan J Mighell, Chris F Inglehearn
Heimler syndrome (HS) consists of recessively inherited sensorineural hearing loss, amelogenesis imperfecta (AI) and nail abnormalities, with or without visual defects. Recently HS was shown to result from hypomorphic mutations in PEX1 or PEX6, both previously implicated in Zellweger Syndrome Spectrum Disorders (ZSSD). ZSSD are a group of conditions consisting of craniofacial and neurological abnormalities, sensory defects and multi-organ dysfunction. The finding of HS-causing mutations in PEX1 and PEX6 shows that HS represents the mild end of the ZSSD spectrum, though these conditions were previously thought to be distinct nosological entities...
November 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27295917/treatment-of-teeth-in-the-esthetic-zone-in-a-patient-with-amelogenesis-imperfecta-using-composite-veneers-and-the-clear-matrix-technique-a-case-report
#19
Aleksandar Bogosavljević, Vanja Misina, Jovana Jordacević, Milka Abazović, Smiljka Dukić, Ljubisa Ristić, Dragana Daković
INTRODUCTION: Restorative dental treatment of patients with a generalized form of amelogenesis imperfecta (AI) remains a challenge even today. The treatment approach is multidisciplinary and includes action of several dental disciplines such as restorative, orthodontic, and prosthetic dental specialties. CASE REPORT: A 18-year-old female patent was referred to the Department of Restorative Dentistry and Periodontology at the Military Medical Academy of Belgrade, Serbia...
March 2016: Vojnosanitetski Pregled. Military-medical and Pharmaceutical Review
https://www.readbyqxmd.com/read/27292199/fam20a-binds-to-and-regulates-fam20c-localization
#20
Yoshio Ohyama, Ju-Hsien Lin, Nattanan Govitvattana, I-Ping Lin, Sundharamani Venkitapathi, Ahmed Alamoudi, Dina Husein, Chunying An, Hak Hotta, Masaru Kaku, Yoshiyuki Mochida
Mutations in the Family with sequence similarity (FAM) 20 gene family are associated with mineralized tissue phenotypes in humans. Among these genes, FAM20A mutations are associated with Amelogenesis Imperfecta (AI) with gingival hyperplasia and nephrocalcinosis, while FAM20C mutations cause Raine syndrome, exhibiting bone and craniofacial/dental abnormalities. Although it has been demonstrated that Raine syndrome associated-FAM20C mutants prevented FAM20C kinase activity and secretion, overexpression of the catalytically inactive D478A FAM20C mutant was detected in both cell extracts and the media...
2016: Scientific Reports
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