Výsledky vyhledávání - "3MC syndrome"

Akademický článek

Whole‐exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3

Autor: Pouria Mohammadi, Elham Salehi Siavashani, Mohammad Farid Mohammadi, Afshin Bahramy, Navid Almadani, Masoud Garshasbi

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)

Abstract Background 3MC syndrome type 3 is an autosomal recessive disorder caused by mutations in the COLEC10 gene besides other genes like COLEC11 and MASP1. This disorder is characterized by facial dysmorphism, cleft lip and palate, postnatal growt

Externí odkaz: https://doaj.org/article/b254f6852b004605bdd1d7c988df9aa8

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Akademický článek

Association of Polymorphisms of MASP1/3, COLEC10, and COLEC11 Genes with 3MC Syndrome

Autor: Gabriela Gajek, Anna S. Świerzko, Maciej Cedzyński

Publikováno v: International Journal of Molecular Sciences, Vol 21, Iss 15, p 5483 (2020)

The Malpuech, Michels, Mingarelli, Carnevale (3MC) syndrome is a rare, autosomal recessive genetic- disorder associated with mutations in the MASP1/3, COLEC1,1 or COLEC10 genes. The number of 3MC patients with known mutations in these three genes rep

Externí odkaz: https://doaj.org/article/4f6101553bfd4f5b9258127fd241211a

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Akademický článek

CL-L1 and CL-K1 Exhibit Widespread Tissue Distribution With High and Co-Localized Expression in Secretory Epithelia and Mucosa

Autor: Soren W. K. Hansen, Josephine B. Aagaard, Karen B. Bjerrum, Eva K. Hejbøl, Ole Nielsen, Henrik D. Schrøder, Karsten Skjoedt, Anna L. Sørensen, Jonas H. Graversen, Maiken L. Henriksen

Publikováno v: Frontiers in Immunology, Vol 9 (2018)

Collectin liver 1 (CL-L1, alias collectin 10) and collectin kidney 1 (CL-K1, alias collectin 11) are oligomeric pattern recognition molecules associated with the complement system, and mutations in either of their genes may lead to deficiency and dev

Externí odkaz: https://doaj.org/article/172edd8b29eb460780aed8ce801ef805

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Autor: Şule Altıner, Ceren Damla Durmaz

Publikováno v: American Journal of Medical Genetics Part A. 185:2267-2270

3MC syndrome is a rare condition manifesting with typical facial appearance, postnatal growth deficiency, skeletal manifestations, and genitourinary tract anomalies. 3MC is caused by biallelic pathogenic variants in MASP1, COLEC11, or COLEC10. Here,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c7cb04208b097fda4505f60fa32e67e6
https://doi.org/10.1002/ajmg.a.62191

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Further Expansion of the Mutational Spectrum of 3MC Syndrome: A Novel MASP1 Pathogenic Variant in a Male Patient

Autor: Nihat Bugra Agaoglu, Ozlem Akgun Dogan

Publikováno v: Molecular Syndromology. 12:379-385

The 3MC syndrome is a rare autosomal recessive syndrome characterized by facial dysmorphism, multiple congenital abnormalities, and postnatal growth deficiency. Hypertelorism, blepharophimosis, blepharoptosis, high-arched eyebrows, and cleft lip/pala

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3ab5447a9f0626dd81720ed679a67fc7
https://doi.org/10.1159/000517370

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Whole‐exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3

Autor: Afshin Bahramy, Masoud Garshasbi, Mohammad Farid Mohammadi, Navid Almadani, Pouria Mohammadi, Elham Salehi Siavashani

Publikováno v: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)

Background 3MC syndrome type 3 is an autosomal recessive disorder caused by mutations in the COLEC10 gene besides other genes like COLEC11 and MASP1. This disorder is characterized by facial dysmorphism, cleft lip and palate, postnatal growth deficie

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0144a130f7420dae0cfb9d54794c734
http://europepmc.org/articles/PMC8606204

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MO059COLEC10 AND 3MC SYNDROME: EXPANDING THE GENOTYPIC AND PHENOTYPIC SPECTRUM OF A VERY RARE DISEASE

Autor: Martina Migliorero, Silvia Kalantari, Licia Peruzzi, Elisa Biamino, Francesca Arruga, Tiziana Vaisitti, Silvia Deaglio, Valeria Bracciamà, Monica Sorbini, Antonio Amoroso

Publikováno v: Nephrology Dialysis Transplantation. 36

Background and Aims 3MC syndrome is an autosomal recessive disorder encompassing a variable spectrum of abnormalities, among which facial dysmorphisms are characteristic. Mutations in genes which encode proteins involved in the lectin complement path

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b8991a0522b43a7c45f3bb91f7645691
https://doi.org/10.1093/ndt/gfab080.0031

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3MC syndrome: A case report

Autor: Seda Çakmaklı, Yaşar Kandur

Publikováno v: Archives of Clinical and Experimental Medicine, Vol 4, Iss 2, Pp 107-109 (2019)

3MC sendromu tipik yüz bulguları, yarık dudak/damak, boy kısalığı, gelişme geriliği, umblikal defekt, genitoüriner ve sakral anomaliler ile seyreden, nadir görülen, otozomal resesif geçiş gösteren bir sendromdur. 3MC sendromlu hastalar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25b4d44982e8c92fd1313f7e056216eb
http://dergipark.org.tr/acem/issue/47515/505975?publisher=www-hasbahceci-com

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