11 results on '"Kantaputra, Piranit"'
Search Results
2. Contributors
- Author
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Acharya, Bhavini, primary, Adewumi, Abimbola O., additional, Al-Batayneh, Ola B., additional, Alcaraz, Alexander, additional, Allareddy, Veerasathpurush, additional, Alrayyes, Sahar M., additional, Amini, Homa, additional, Andrews, Paul, additional, Beavers, Kay S., additional, Brecher, Erica, additional, Brewer, R. John, additional, Brownstein, Jeffrey N., additional, Casamassimo, Paul S., additional, Cehreli, Zafer C., additional, Chi, Donald L., additional, Christensen, John R., additional, Christensen, Samuel J., additional, Cooke, Matthew, additional, da Fonseca, Marcio A., additional, Dahlke, William O., additional, Donly, Kevin J., additional, Fida, Zameera, additional, Fields, Henry, additional, Flaitz, Catherine M., additional, Florez, Fernando L. Esteban, additional, Fournier, Suzanne, additional, Fuks, Anna B., additional, Geneser, Matthew K., additional, Gilbaugh, Gayle J., additional, Gosnell, Elizabeth S., additional, Gross, Erin L., additional, Gross, Steven H., additional, Guelmann, Marcio, additional, Hallett, Kerrod B., additional, Hammersmith, Kimberly J., additional, Haney, Kevin L., additional, Hodgson, Brian D., additional, Holan, Gideon, additional, Hughes, Cody C., additional, Ignelzi, Michael A., additional, Jackson, Janice G., additional, Jamjoom, Faris, additional, Kanellis, Michael J., additional, Kantaputra, Piranit Nik, additional, Khajotia, Sharukh S., additional, Knobloch, Lisa, additional, Kupietzky, Ari, additional, Law, Clarice S., additional, Leary, Kecia S., additional, Mabry, Tad R., additional, Marek, Cindy L., additional, McTigue, Dennis J., additional, Meyer, Beau D., additional, Nelson, Travis, additional, Ng, Man Wai, additional, Nowak, Arthur J., additional, Nuni, Eyal, additional, Owais, Arwa I., additional, Pahel, Bhavna T., additional, Quinonez, Rocio B., additional, Ram, Diana, additional, Rayes, Steve K., additional, Sasa, Issa S., additional, Schwartz, Scott B., additional, Seale, N. Sue, additional, Sheats, Rose D., additional, Shenkin, Jonathan D., additional, Sivaraman, Sujatha S., additional, Skotowski, M. Catherine, additional, Slayton, Rebecca L., additional, Spadinger, Andrew, additional, Stark, Thomas R., additional, Stenberg, William V., additional, Studen-Pavlovich, Deborah, additional, Sulyanto, Rosalyn M., additional, Tanbonliong, Thomas, additional, Thikkurissy, S., additional, Timmons, Sherry R., additional, Tinanoff, Norman, additional, Townsend, Janice A., additional, Velan, Elizabeth, additional, Vieira, Adriana Modesto, additional, Vinall, Craig V., additional, Waggoner, William F., additional, Wallen, Jillian, additional, Weber-Gasparoni, Karin, additional, Wells, Martha H., additional, Wood, A. Jeffrey, additional, Wright, J. Timothy, additional, Yar Khan, Vajahat, additional, Yepes, Juan F., additional, Yoon, Audrey Jung-Sun, additional, and Zawaideh, Feda, additional
- Published
- 2019
- Full Text
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3. Embriología humana y biología del desarrollo
- Author
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Carlson, Bruce M., Kantaputra, Piranit Nik, Carlson, Bruce M., and Kantaputra, Piranit Nik
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- Human growth, Embryology, Human, Developmental biology
- Abstract
Nueva edición de la obra de referencia en la disciplina que recoge toda la información necesaria para comprender el desarrollo del embrión humano, desde la concepción hasta el momento del nacimiento, con un enfoque claramente molecular, que explica el porqué además del cómo. La obra cuenta con una magnífica iconografía con más de 500 imágenes a todo color en las que se presentan las diferentes fases del desarrollo embrionario tanto en condiciones de normalidad como de determinadas patologías. En esta edición se han incorporado 50 nuevas figuras. A lo largo de los capítulos enfatiza especialmente la correlación existente entre las anomalías del desarrollo y sus manifestaciones clínicas. Por ello, incorpora unos cuadros específicos detallando la importancia de las correlaciones clínicas. La nueva edición presenta una exhaustiva revisión de todos los capítulos, ya que recoge la información más novedosa en relación a los avances que se han producido en el conocimiento de las fases inciales del desarrollo, en el desarrollo de los vasos sanguíneos y linfáticos, en el desarrollo inicial de las gónadas y en el desarrollo de la cresta neural. Incluye contenido adicional online en inglés a través de la plataforma StudentConsult.com en donde se da acceso a todas las imágenes del libro impreso y a varias animaciones de distintas fases del desarrollo. La obra de referencia en la disciplina, de máxima utilidad para comprender el desarrollo del mbrión humano, con un enfoque molecular que explica el porqué además del cómo. Cuenta con una magnífica iconografía con más de 500 imágenes a todo color en las que se presentan las diferentes fases del desarrollo embrionario tanto en condiciones de normalidad como de determinadas patologías. Enfatiza especialmente la correlación existente entre las anomalías del desarrollo y sus manifestaciones clínicas, para lo que incorpora cuadros específicos detallando la importancia de las correlaciones clínicas. Incluye acceso a la web StudentConsutl, con todas las imágenes del libro impreso y a animaciones de distintas fases del desarrollo.
- Published
- 2014
4. Novel Dental Anomaly-associated Mutations in WNT10A Protein Binding Sites.
- Author
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Kantaputra P, Jatooratthawichot P, Tantachamroon O, Nanekrungsan K, Intachai W, Olsen B, Tongsima S, Ngamphiw C, and Cairns JRK
- Subjects
- Humans, Protein Binding, Phenotype, Mutation, Wnt Proteins genetics, Wnt Proteins chemistry, Wnt Proteins metabolism, Binding Sites, Anodontia genetics
- Abstract
Objective: WNT/β-catenin signaling is initiated by binding of a WNT protein to a Frizzled (FZD) receptor and a co-receptor, low-density lipoprotein (LDL) receptor-related protein 5 or 6 (LRP5/6). The objective of this study was to find the genetic variants responsible for dental anomalies found in 4 families., Methods: Clinical and radiographic examination and whole exome sequencing were performed on 5 patients affected with dental anomalies and the mutant proteins modeled., Results: Five patients were heterozygous for the WNT10A variants, including c.877C>T; p.Arg293Cys, c.874A>G; p.Ser292Gly, c.1042C>T; p.Arg348Cys, and c.1039G>T; p.347GluX. The p.Arg293Cys and p.Ser292Gly mutations are located in the WNT10A N-terminal domain region with binding sites for FZD receptor, porcupine, WNTLESS, and extracellular binding proteins, so they are likely to have adverse effects on binding these proteins. The p.Arg348Cys mutation, which is located in the binding site of LRP5/6 co-receptors, is postulated to result in impaired binding to these co-receptors. The nonsense mutation p.347GluX is predicted to result in the truncation of most of the C-terminal domain, which is likely to disrupt the binding of WNT10A to WNTLESS, the membrane protein that binds lipid-acylated WNT proteins to carry them from the endoplasmic reticulum to the cell surface and FZD., Conclusions: Four novel mutations in WNT10A were identified in patients with isolated tooth agenesis. The mutations in the N-terminal domain and the interface between the N- and C-terminal domains of WNT10A in our patients are likely to disrupt its binding with FZD, LRP5/6, and various other proteins involved in WNT10A processing and transport, impair WNT and SHH signaling, and subsequently result in tooth agenesis, microdontia, and root maldevelopment., Competing Interests: Conflict of interest None disclosed., (Copyright © 2022 The Authors. Published by Elsevier Inc. All rights reserved.)
- Published
- 2023
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5. Distal renal tubular acidosis, autoimmune thyroiditis, enamel hypomaturation, and tooth agenesis caused by homozygosity of a novel double-nucleotide substitution in SLC4A4.
- Author
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Kantaputra P, Guven Y, Aksu B, Kalayci T, Doğan C, Intachai W, Olsen B, Tongsima S, Ngamphiw C, and Noppakun K
- Subjects
- Animals, Corneal Dystrophies, Hereditary, Dental Enamel, Humans, Mice, Nucleotides metabolism, Sodium-Bicarbonate Symporters genetics, Acidosis, Renal Tubular complications, Acidosis, Renal Tubular diagnosis, Acidosis, Renal Tubular genetics, Amelogenesis Imperfecta complications, Amelogenesis Imperfecta genetics, Cataract complications, Dental Pulp Calcification complications, Nephrocalcinosis complications, Nephrolithiasis complications, Thyroiditis, Autoimmune complications
- Abstract
Background: Mutations in SLC4A4 have been reported to be associated with proximal renal tubular acidosis (RTA), short stature, band keratopathy, cataract, glaucoma, and hypoplastic-type amelogenesis imperfecta. In this study, the authors describe the clinical manifestations, and investigate the molecular etiology, in a patient with RTA., Case Description: The authors report on a girl with distal RTA who carried a novel homozygous base substitution of 2 consecutive base pair variants (NM_001098484.3:c.808-2A>C and NM_001098484.3:c.808-1G>C) in the SLC4A4 gene. The patient had clinical manifestations of autoimmune thyroiditis and distal RTA, including hypercalciuria, nephrocalcinosis, and nephrolithiasis. In addition to the presence of hypoplastic-type amelogenesis imperfecta, generalized enamel hypomaturation, a feature seen in mice lacking Slc4a4, was also observed in the patient. The basic defect in this patient appeared to be impaired hydrogen ion secretion, leading to an inability to acidify the urine, resulting in alkaline urine (despite a normal serum anion gap), hypokalemic, and hyperchloremic metabolic acidosis. The pulp stones found in the patient may likely be the consequences of a disrupted acid-base homeostatic environment that precipitated mineral deposits. Even with proper treatments for distal RTA, the patient has had frequent recurrences of band keratopathy, pupillary membrane, and cataract., Practical Implications: This is the first report of distal RTA, autoimmune thyroiditis, tooth agenesis, enamel hypomaturation, and pulp stones associated with an SLC4A4 mutation. It is important for dentists to be aware that amelogenesis imperfecta in patients may be a sign of systemic diseases including RTA, nephrocalcinosis, or nephrolithiasis., (Copyright © 2022 American Dental Association. Published by Elsevier Inc. All rights reserved.)
- Published
- 2022
- Full Text
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6. A novel P3H1 mutation is associated with osteogenesis imperfecta type VIII and dental anomalies.
- Author
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Kantaputra PN, Dejkhamron P, Intachai W, Ngamphiw C, Ketudat Cairns JR, Kawasaki K, Ohazama A, Olsen B, Tongsima S, and Angkurawaranon S
- Subjects
- Animals, Humans, Mice, Mutation, Missense, Membrane Glycoproteins genetics, Osteogenesis Imperfecta diagnostic imaging, Osteogenesis Imperfecta genetics, Prolyl Hydroxylases genetics, Proteoglycans genetics
- Abstract
Objective: Our objective was to investigate the molecular etiology of osteogenesis imperfecta type VIII and dental anomalies in 4 siblings of a Karen tribe family., Materials and Methods: Four patients and their unaffected parents were studied by clinical and radiographic examination. In situ hybridization of P3h1 during early murine tooth development, whole-exome sequencing, and Sanger direct sequencing were performed., Results: A novel homozygous missense P3H1 mutation (NM_001243246.1; c.2141A>G; NP_001230175.1; p.Lys714Arg) was identified in all patients. Their unaffected parents were heterozygous for the mutation. The mutation is hypothesized to belong to isoform c of P3H1. Mutations in P3H1 are associated with autosomal recessive osteogenesis imperfecta type VIII. Hypodontia, a mesiodens, and single-rooted permanent second molars found in our patients have never been reported in patients with P3H1 mutations. Single-rooted second permanent molars or failure to form multiple roots implies effects of the P3H1 mutation on root development., Conclusions: We report a novel P3H1 mutation as the underlying cause of osteogenesis imperfecta type VIII with dental anomalies. Our study suggests that isoform c of P3H1 is also a functional isoform of P3H1. We report, for the first time, to our knowledge, the association of P3H1 mutation and osteogenesis imperfecta type VIII with dental anomalies., (Copyright © 2021 Elsevier Inc. All rights reserved.)
- Published
- 2021
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7. Split hand-foot malformation and a novel WNT10B mutation.
- Author
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Kantaputra PN, Kapoor S, Verma P, Intachai W, and Ketudat Cairns JR
- Subjects
- Female, Humans, Infant, Models, Molecular, Proto-Oncogene Proteins chemistry, Wnt Proteins chemistry, Limb Deformities, Congenital genetics, Proto-Oncogene Proteins genetics, Wnt Proteins genetics
- Abstract
We report an Indian girl with split-hand/foot malformation (SHFM), sparse hair, and interrupted eyebrows, who carries a novel homozygous deletion c.695_697delACA in WNT10B. The variant is deduced to cause an in-frame deletion of Asn residue 232 (p.Asn232del). According to the protein model, this single amino acid deletion at the critical position in the protein structure is likely to severely affect the protein structure and function. This deletion is likely to lead decreased lifetime and make it unable to bind to its receptors and other ligands. The patient and all family members had normal bone density and they were not obese like some of the patients with WNT10B variants. Here we report a patient with SHFM6 who carried a novel WNT10B mutation. Sparse hair and interrupted eyebrows may be associated findings of SHFM6., (Copyright © 2018 Elsevier Masson SAS. All rights reserved.)
- Published
- 2018
- Full Text
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8. Al-Awadi-Raas-Rothschild syndrome with dental anomalies and a novel WNT7A mutation.
- Author
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Kantaputra PN, Kapoor S, Verma P, Kaewgahya M, Kawasaki K, Ohazama A, and Ketudat Cairns JR
- Subjects
- Adult, Amenorrhea diagnosis, Animals, Child, Preschool, Ectromelia diagnosis, Epithelium metabolism, Homozygote, Humans, Male, Mice, Pedigree, Tooth Abnormalities diagnosis, Amenorrhea genetics, Ectromelia genetics, Mutation, Missense, Pelvic Bones abnormalities, Tooth Abnormalities genetics, Uterus abnormalities, Wnt Proteins genetics
- Abstract
Al-Awadi-Raas-Rothschild syndrome (AARRS; OMIM 276820) is a very rare autosomal recessive limb malformation syndrome caused by WNT7A mutations. AARRS is characterized by various degrees of limb aplasia and hypoplasia. Normal intelligence and malformations of urogenital system are frequent findings. Complete loss of WNT7A function has been shown to cause AARRS, however, its partial loss leads to the milder malformation, Fuhrmann syndrome. An Indian boy affected with AARRS is reported. A novel homozygous base substitution mutation c.550A > C (p.Asn184Asp) is identified in the patient. Parents were heterozygous for the mutation. In addition to the typical features of AARRS, the patient had agenesis of the mandibular left deciduous lateral incisor. The heterozygous parents had microdontia of the maxillary left permanent third molar and taurodontism (enlarged dental pulp chamber at the expense of root) in a number of their permanent molars. Whole exome sequencing of the patient and his parents ruled out mutations in 11 known hypodontia-associated genes including WNT10A, MSX1, EDA, EDAR, EDARADD, PAX9, AXIN2, GREM2, NEMO, KRT17, and TFAP2B. In situ hybridization during tooth development showed Wnt7a expression in wild-type tooth epithelium at E14.5. All lines of evidence suggest that WNT7A has important role in tooth development and its mutation may lead to tooth agenesis, microdontia, and taurodontism. Oral examination of patients with AARRS and Fuhrmann syndromes is highly recommended., (Copyright © 2017 Elsevier Masson SAS. All rights reserved.)
- Published
- 2017
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9. Response to the letter to the editor by Idil Kurtulus-Waschulewski; Gerhard Wahl, Prof. Dr.; Katalyn Dittrich; Volker Schuster.
- Author
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Kantaputra PN
- Subjects
- Animals, Female, Humans, Radiography, Conjunctivitis diagnosis, Dentin diagnostic imaging, Plasminogen deficiency, Plasminogen genetics, Skin Diseases, Genetic diagnosis, Tooth Abnormalities diagnostic imaging
- Published
- 2015
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10. Root dentin anomaly and a PLG mutation.
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Tananuvat N, Charoenkwan P, Ohazama A, Ketuda Cairns JR, Kaewgahya M, and Kantaputra PN
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- Animals, Child, Conjunctivitis genetics, Conjunctivitis surgery, DNA Mutational Analysis, Dentin abnormalities, Female, Genetic Association Studies, Homozygote, Humans, Mice, Mutation, Missense, Radiography, Skin Diseases, Genetic genetics, Skin Diseases, Genetic surgery, Tooth Abnormalities genetics, Tooth Root abnormalities, Tooth Root diagnostic imaging, Conjunctivitis diagnosis, Dentin diagnostic imaging, Plasminogen deficiency, Plasminogen genetics, Skin Diseases, Genetic diagnosis, Tooth Abnormalities diagnostic imaging
- Abstract
We report a Thai girl affected with plasminogen deficiency, Type I. Ligneous conjunctivitis was first observed when she was one-month-old. The newly recognized findings include tapered incisor roots as a result of thin root dentin, generalized short tooth roots, and mandibular prognathism. Mutation analysis of PLG demonstrated homozygous c.1193G>A missense mutation. The parents were heterozygous for c.1193G>A mutation. The c.1193G>A mutation is novel and predicted to cause amino acid substitution p.Cys398Tyr. Thin root dentin in the patient who was affected with PLG mutation and immunolocalization of Plg during early root development in mice imply the role of plasminogen in root dentin formation., (Copyright © 2014 Elsevier Masson SAS. All rights reserved.)
- Published
- 2014
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11. Twins with hereditary sensory and autonomic neuropathy type IV with preserved periodontal sensation.
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Guven Y, Altunoglu U, Aktoren O, Uyguner ZO, Kayserili H, Kaewkahya M, and Kantaputra PN
- Subjects
- Abnormalities, Multiple genetics, Adolescent, Consanguinity, DNA Mutational Analysis, Diseases in Twins genetics, Hereditary Sensory and Autonomic Neuropathies genetics, Humans, Male, Pedigree, Receptor, trkA genetics, Sensation, Twins, Abnormalities, Multiple diagnosis, Diseases in Twins diagnosis, Hereditary Sensory and Autonomic Neuropathies diagnosis, Tooth physiopathology
- Abstract
Turkish twin brothers affected with hereditary sensory and autonomic neuropathy type IV (HSAN IV) are reported. Their clinical findings were generally typical for HSAN IV. Interestingly they both had preserved periodontal sensation. Mutation analysis of the NTRK1 gene showed a homozygous c.2001C>T substitution in exon 15 in both twins. This base substitution is predicted to change a polar, positively charged amino acid arginine to the highly active amino acid cystein at position 654 (p.Arg654Cys). The parents were heterozygous for the mutation. This mutation has been reported previously in one Japanese and one Arab patients. The preserved periodontal sensation has not previously been reported in patients affected with HSAN IV. This preserved sensation in our patients might have been through Ruffini endings, the periodontal mechanoreceptors which have been reported to be present in TrkA knockout mice. Here we report the first twins affected with HSAN IV and the observation that periodontal sensation is not affected by mutation in NTRK1., (Copyright © 2014 Elsevier Masson SAS. All rights reserved.)
- Published
- 2014
- Full Text
- View/download PDF
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