Cargando…

Whole-Exome Sequencing Identified Two Novel Pathogenic Mutations in the PTCH1 Gene in BCNS

Basal cell nevus syndrome (BCNS, OMIM 109400) is a familial cancer syndrome characterized by the development of numerous basal cell cancers and various other developmental abnormalities, including epidermal cysts of the skin, calcified dural folds, keratocysts of the jaw, palmar and plantar pits, ov...

Descripción completa

Detalles Bibliográficos
Autores principales:	Pál, Margit, Vetró, Éva, Nagy, Nikoletta, Nagy, Dóra, Horváth, Emese, Bokor, Barbara Anna, Varga, Anita, Seres, László, Oláh, Judit, Piffkó, József, Széll, Márta
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10378406/ https://www.ncbi.nlm.nih.gov/pubmed/37504252 http://dx.doi.org/10.3390/cimb45070336

Ejemplares similares

Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients
por: Pál, Margit, et al.
Publicado: (2023)

Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases
por: Horváth, Emese, et al.
Publicado: (2013)

Identification of a novel missense GLRA1 gene mutation in hyperekplexia: a case report
por: Horváth, Emese, et al.
Publicado: (2014)

Genetic investigation confirmed the clinical phenotype of congenital chloride diarrhea in a Hungarian patient: a case report
por: Dávid, Éva, et al.
Publicado: (2019)

Correction of a severe facial asymmetry with computerized planning and with the use of a rapid prototyped surgical template: a case report/technique article
por: Seres, Laszlo, et al.
Publicado: (2014)

Nuclear Factor κB Activation in a Type V Pityriasis Rubra Pilaris Patient Harboring Multiple CARD14 Variants
por: Danis, Judit, et al.
Publicado: (2018)

Likely Pathogenic Variants of Ca(v)1.3 and Na(v)1.1 Encoding Genes in Amyotrophic Lateral Sclerosis Could Elucidate the Dysregulated Pain Pathways
por: Nagy, Zsófia Flóra, et al.
Publicado: (2023)

Genetic Testing in CYLD Cutaneous Syndrome: An Update
por: Nagy, Nikoletta, et al.
Publicado: (2021)

Angiogenin mutations in Hungarian patients with amyotrophic lateral sclerosis: Clinical, genetic, computational, and functional analyses
por: Tripolszki, Kornélia, et al.
Publicado: (2019)

The rs13388259 Intergenic Polymorphism in the Genomic Context of the BCYRN1 Gene Is Associated with Parkinson's Disease in the Hungarian Population
por: Márki, Sándor, et al.
Publicado: (2018)

Global gene expression of histologically normal primary skin cells from BCNS subjects reveals “single-hit” effects that are influenced by rapamycin
por: Phatak, Amruta, et al.
Publicado: (2019)

High‐throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis
por: Tripolszki, Kornélia, et al.
Publicado: (2017)

Whole‐exome sequencing of nevoid basal cell carcinoma syndrome families and review of Human Gene Mutation Database PTCH1 mutation data
por: Gianferante, D. Matthew, et al.
Publicado: (2018)

Comprehensive Genetic Analysis of a Hungarian Amyotrophic Lateral Sclerosis Cohort
por: Tripolszki, Kornélia, et al.
Publicado: (2019)

Ptch1 overexpression drives skin carcinogenesis and developmental defects in K14Ptch(FVB) mice
por: Kang, Hio Chung, et al.
Publicado: (2012)

Different Response of Ptch Mutant and Ptch Wildtype Rhabdomyosarcoma Toward SMO and PI3K Inhibitors
por: Geyer, Natalie, et al.
Publicado: (2018)

Accuracy and clinical safety of guided root end resection with a trephine: a case series
por: Antal, Márk, et al.
Publicado: (2019)

Effects of Dietary Milk Thistle (Silybum marianum) Supplementation in Ducks Fed Mycotoxin-Contaminated Diets
por: Bencze-Nagy, Jennifer, et al.
Publicado: (2023)

Genetic Screening of a Hungarian Cohort with Focal Dystonia Identified Several Novel Putative Pathogenic Gene Variants
por: Salamon, András, et al.
Publicado: (2023)

Cloud-Based Multicenter Data Collection and Epidemiologic Analysis of Bisphosphonate-Related Osteonecrosis of the Jaws in a Central European Population
por: Vereb, Tamás, et al.
Publicado: (2020)

Genome-wide identification, phylogeny, evolution, and expression patterns of MtN3/saliva/SWEET genes and functional analysis of BcNS in Brassica rapa
por: Miao, Liming, et al.
Publicado: (2018)

Secondary correction of nasal deformities in cleft lip and palate patients: surgical technique and outcome evaluation
por: Vass, Gabor, et al.
Publicado: (2016)

New insight into the role of PTCH1 protein in serous ovarian carcinomas
por: Karin-Kujundzic, Valentina, et al.
Publicado: (2022)

Challenges in the Complex Management of Neglected Cutaneous Melanomas in the Head and Neck Area: A Single Center Experience
por: Lázár, Péter, et al.
Publicado: (2023)

Ptch2/Gas1 and Ptch1/Boc differentially regulate Hedgehog signalling in murine primordial germ cell migration
por: Kim, Yeonjoo, et al.
Publicado: (2020)

Identification of two novel mutations in the SLC45A2 gene in a Hungarian pedigree affected by unusual OCA type 4
por: Tóth, Lola, et al.
Publicado: (2017)

HTS-Based Monitoring of the Efficiency of Somatic Embryogenesis and Meristem Cultures Used for Virus Elimination in Grapevine
por: Turcsan, Mihaly, et al.
Publicado: (2020)

A novel approach for determining instantaneous centers of rotation of the mandible with an intraoral scanner: A preliminary study
por: Safrany-Fark, Arpad, et al.
Publicado: (2023)

Role of PTCH1 gene methylation in gastric carcinogenesis
por: ZUO, YUN, et al.
Publicado: (2014)

Unexpected phenotype in a frameshift mutation of PTCH1
por: Beltrami, Benedetta, et al.
Publicado: (2019)

A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?
por: Altaraihi, M., et al.
Publicado: (2019)

Author Correction: Ptch2/Gas1 and Ptch1/Boc differentially regulate Hedgehog signalling in murine primordial germ cell migration
por: Kim, Yeonjoo, et al.
Publicado: (2020)

Autoimmune Progressive Fibrosing Interstitial Lung Disease: Predictors of Fast Decline
por: Nagy, Alexandra, et al.
Publicado: (2021)

Parentage testing and looking for single nucleotide markers associated with antler quality in deer (Cervus elaphus)
por: Elblinger, Edith, et al.
Publicado: (2022)

Systemic Screening for 22q11.2 Copy Number Variations in Hungarian Pediatric and Adult Patients With Congenital Heart Diseases Identified Rare Pathogenic Patterns in the Region
por: Zodanu, Gloria Kafui Esi, et al.
Publicado: (2021)

Oxidative stress induces transient O‐GlcNAc elevation and tau dephosphorylation in SH‐SY5Y cells
por: Kátai, Emese, et al.
Publicado: (2016)

Emotion Recognition Pattern in Adolescent Boys with Attention-Deficit/Hyperactivity Disorder
por: Aspan, Nikoletta, et al.
Publicado: (2014)

Ptch2 loss drives myeloproliferation and myeloproliferative neoplasm progression
por: Klein, Claudius, et al.
Publicado: (2016)

Targeting the Multidrug Transporter Ptch1 Potentiates Chemotherapy Efficiency
por: Hasanovic, Anida, et al.
Publicado: (2018)

Mutation of the PTCH1 gene predicts recurrence of breast cancer
por: Wang, Chih-Yang, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_pt2je133ua1nurchieore1b1ho