Cargando…

MIRAGE syndrome caused by a novel missense variant (p.Ala1479Ser) in the SAMD9 gene

MIRAGE syndrome is a recently identified disorder characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. It is caused by a gain-of-function variant in the SAMD9 gene, but there is limited knowledge regarding the genotype–phenotype...

Descripción completa

Detalles Bibliográficos
Autores principales:	Onuma, Shinsuke, Wada, Tamaki, Araki, Ryosuke, Wada, Kazuko, Tanase-Nakao, Kanako, Narumi, Satoshi, Fukui, Miho, Shoji, Yasuko, Etani, Yuri, Ida, Shinobu, Kawai, Masanobu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2020
Materias:	Data Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057985/ https://www.ncbi.nlm.nih.gov/pubmed/32194975 http://dx.doi.org/10.1038/s41439-020-0091-5

Ejemplares similares

Acquired uniparental disomy of chromosome 7 in a patient with MIRAGE syndrome that veiled a pathogenic SAMD9 variant
por: Tanase-Nakao, Kanako, et al.
Publicado: (2021)

Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome
por: Suntharalingham, Jenifer P., et al.
Publicado: (2022)

Identification and functional analysis of a novel missense mutation in GJA8, p.Ala69Thr
por: Li, Dandan, et al.
Publicado: (2020)

The case of a patient with MIRAGE syndrome with familial dysautonomia-like symptoms
por: Kawashima-Sonoyama, Yuki, et al.
Publicado: (2021)

Hereditary myotonia in cats associated with a new homozygous missense variant p.Ala331Pro in the muscle chloride channel ClC‐1
por: Corrêa, Sílvia, et al.
Publicado: (2023)

Thyroid hormone status in patients with severe selenium deficiency
por: Kawai, Masanobu, et al.
Publicado: (2018)

A Novel Missense Variant C.2571 (P.Ala857=) of the DHX38 Gene in a Saudi Family Causes an Autosomal Recessive Retinitis Pigmentosa
por: Al-Johani, Saud, et al.
Publicado: (2022)

The East Asian-specific LPL p.Ala288Thr (c.862G > A) missense variant exerts a mild effect on protein function
por: Hu, Yuepeng, et al.
Publicado: (2023)

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?
por: Neeve, Vivienne C. M., et al.
Publicado: (2012)

Oligogenic basis of sporadic ALS: The example of SOD1 p.Ala90Val mutation
por: Kuuluvainen, Liina, et al.
Publicado: (2019)

A girl with MIRAGE syndrome who developed steroid-resistant nephrotic syndrome: a case report
por: Ishiwa, Sho, et al.
Publicado: (2020)

Rare missense variant p.Ala505Ser in the ZAK protein observed in a patient with split-hand/foot malformation from a non-consanguineous pedigree
por: Funk, Christopher Ronald, et al.
Publicado: (2020)

Palas Papra
por: Rao, Raghupatie Mohun
Publicado: (1878)

Association of FOXE3-p.Ala170Ala and PITX3-p.Ile95Ile Polymorphisms with Congenital Cataract and Microphthalmia
por: Vidya, Nair Gopinathan, et al.
Publicado: (2018)

Retinal phenotypic characterization of patients with ABCA4 retinopathydue to the homozygous p.Ala1773Val mutation
por: López-Rubio, Salvador, et al.
Publicado: (2018)

Confirmation that MAT1A p.Ala259Val mutation causes autosomal dominant hypermethioninemia
por: Muriello, Michael J., et al.
Publicado: (2017)

Reversion SAMD9 Mutations Modifying Phenotypic Expression of MIRAGE Syndrome and Allowing Inheritance in a Usually de novo Disorder
por: Roucher-Boulez, Florence, et al.
Publicado: (2019)

Draft Genome Sequences of Synechococcus sp. strains CCAP1479/9, CCAP1479/10, CCAP1479/13, CCY0621, and CCY9618: Five Freshwater Syn/Pro Clade Picocyanobacteria
por: Druce, Elliot, et al.
Publicado: (2023)

Case Report: A novel PHOX2B p.Ala248_Ala266dup variant causing congenital central hypoventilation syndrome
por: Artamonova, Irina N., et al.
Publicado: (2023)

Histological analysis of testes in patients with 5 alpha-reductase deficiency type 2: Comparison with cryptorchid testes in patients without endocrinological abnormalities and a review of the literature
por: Wada, Tamaki, et al.
Publicado: (2022)

Molino de palas : Tango
por: Pucci, Silvio
Publicado: (1982)

The Fibroblast Growth Factor Receptor 2 p.Ala172Phe Mutation in Pfeiffer Syndrome—History Repeating Itself
por: Jay, Sally, et al.
Publicado: (2013)

Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans
por: Rymer, Karen, et al.
Publicado: (2019)

The Pathogenic Mechanism of the ATP2C1 p.Ala109_Gln120del Mutation in Hailey–Hailey Disease
por: Li, Peiyao, et al.
Publicado: (2022)

The Variant p.Ala84Pro Is Causative of X-Linked Hypophosphatemic Rickets: Possible Relationship with Burosumab Swinging Response in Adults
por: Zagari, Maria Carmela, et al.
Publicado: (2022)

A Rare Etiology of 46,XY Disorder of Sex Development and Adrenal Insufficiency: A Case of MIRAGE Syndrome Caused by Mutations in the SAMD9 Gene
por: Mengen, Eda, et al.
Publicado: (2020)

MIRAGE syndrome with recurrent pneumonia probably associated with gastroesophageal reflux and achalasia: A case report
por: Yoshizaki, Kanako, et al.
Publicado: (2019)

BRCA2 genemutation, c.2808_2811delACAA (p.Ala938Profs), in malebreastcancer – clinicopathologicalanalysisbased on a case report
por: Huszno, Joanna, et al.
Publicado: (2020)

1479 Evaluation of Tularemia Courses: A Multicenter Study From Turkey
por: Erdem, Hakan, et al.
Publicado: (2014)

Technicolour; oasis or mirage?
Publicado: (1981)

L'audio-mirage
por: Fenet, Joan
Publicado: (1973)

Technicolour - oasis or mirage?
por: Ellis, Jonathan Richard
Publicado: (1981)

Evolution and divergence of the mammalian SAMD9/SAMD9L gene family
por: Lemos de Matos, Ana, et al.
Publicado: (2013)

Palas y las musas : diálogos entre la ciencia y el arte /
Publicado: (2016)

Nephrogenic diabetes insipidus caused by a novel missense variant (p.S127Y) in the AVPR2 gene
por: Maeyama, Takatoshi, et al.
Publicado: (2021)

SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies
por: Davidsson, Josef, et al.
Publicado: (2018)

Mirages of transition : the Peruvian altiplano, 1780-1930 /
por: Jacobsen, Nils, 1948-
Publicado: (1993)

Mirage of health : utopias, progress, and biological change /
por: Dubos, René J. 1901-1982 (René Jules)
Publicado: (1961)

1479. Evaluating the Impact of Procalcitonin on Antibiotic Utilization in Chronic Obstructive Pulmonary Disease Exacerbations
por: Lin, Kevin, et al.
Publicado: (2018)

A Hemophagocytic Lymphohistiocytosis Case with Newly Defined UNC13D (c.175G>C; p.Ala59Pro) Mutation and a Rare Complication
por: Işık Balcı, Yasemin, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_65tpor0leb1j4vdv73q4rp7n0o