Results 41 to 50 of about 533,909 (169)

Caso para diagnóstico Case for diagnosis

Anais Brasileiros de Dermatologia, 2009
Queratose folicular espinulosa decalvante é uma genodermatose rara, ligada ao X, caracterizada por hiperqueratose folicular, fotofobia, alopécia cicatricial do couro cabeludo e supercílios. Descreve-se o caso de paciente do sexo feminino, de 25 anos, com
Carine Veloso de Carvalho, Ivander Bastazini Junior, Jaison Antonio Barreto, Isabela de Brito Duarte, Raissa Borém Pimenta de Figueiredo   +4 more
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Estimating the number of diseases – the concept of rare, ultra-rare, and hyper-rare

iScience, 2022
Summary At the dawn of the personalized medicine era, the number of rare diseases has been estimated at 10,000. By considering the influence of environmental factors together with genetic variations and our improved diagnostic capabilities, an assessment
C. E. Smith, P. Bergman, Daniel W. Hagey
semanticscholar   +1 more source

Advances of gene therapy for primary immunodeficiencies [version 1; referees: 2 approved]

F1000Research, 2016
In the recent past, the gene therapy field has witnessed a remarkable series of successes, many of which have involved primary immunodeficiency diseases, such as X-linked severe combined immunodeficiency, adenosine deaminase deficiency, chronic ...
Fabio Candotti
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Escape from X Chromosome Inactivation and the Female Predominance in Autoimmune Diseases

International Journal of Molecular Sciences, 2021
Women represent 80% of people affected by autoimmune diseases. Although, many studies have demonstrated a role for sex hormone receptor signaling, particularly estrogens, in the direct regulation of innate and adaptive components of the immune system ...
A. Youness, Charles-Henry Miquel, J. Guéry   +2 more
semanticscholar   +1 more source

Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies

Biomolecules, 2023
Inherited retinal dystrophies (IRDs) are congenital retinal degenerative diseases that have various inheritance patterns, including dominant, recessive, X-linked, and mitochondrial.
Andrew Manley, Bahar I. Meshkat, Monica M. Jablonski, T.J. Hollingsworth   +3 more
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The odontoblastic differentiation of dental mesenchymal stem cells: molecular regulation mechanism and related genetic syndromes

Frontiers in Cell and Developmental Biology, 2023
Dental mesenchymal stem cells (DMSCs) are multipotent progenitor cells that can differentiate into multiple lineages including odontoblasts, osteoblasts, chondrocytes, neural cells, myocytes, cardiomyocytes, adipocytes, endothelial cells, melanocytes ...
Houwen Pan, Houwen Pan, Houwen Pan, Houwen Pan, Houwen Pan, Houwen Pan, Yiling Yang, Yiling Yang, Yiling Yang, Yiling Yang, Yiling Yang, Yiling Yang, Hongyuan Xu, Hongyuan Xu, Hongyuan Xu, Hongyuan Xu, Hongyuan Xu, Hongyuan Xu, Anting Jin, Anting Jin, Anting Jin, Anting Jin, Anting Jin, Anting Jin, Xiangru Huang, Xiangru Huang, Xiangru Huang, Xiangru Huang, Xiangru Huang, Xiangru Huang, Xin Gao, Xin Gao, Xin Gao, Xin Gao, Xin Gao, Xin Gao, Siyuan Sun, Siyuan Sun, Siyuan Sun, Siyuan Sun, Siyuan Sun, Siyuan Sun, Yuanqi Liu, Yuanqi Liu, Yuanqi Liu, Yuanqi Liu, Yuanqi Liu, Yuanqi Liu, Jingyi Liu, Jingyi Liu, Jingyi Liu, Jingyi Liu, Jingyi Liu, Jingyi Liu, Tingwei Lu, Tingwei Lu, Tingwei Lu, Tingwei Lu, Tingwei Lu, Tingwei Lu, Xinyu Wang, Xinyu Wang, Xinyu Wang, Xinyu Wang, Xinyu Wang, Xinyu Wang, Yanfei Zhu, Yanfei Zhu, Yanfei Zhu, Yanfei Zhu, Yanfei Zhu, Yanfei Zhu, Lingyong Jiang, Lingyong Jiang, Lingyong Jiang, Lingyong Jiang, Lingyong Jiang, Lingyong Jiang   +77 more
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Blaschko's lines, a pattern expressed in some dermatological illnesses

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2018
With the current advances of genetics several skin conditions with a lineal disposition due to cutaneous mosaicisms have been able to be diagnosed. Although there are five different patterns, Blaschko's lines are the most frequent ones.
Yordania Velázquez-Ávila, Maritza Morales-Solís, Julio Enrique Torres-Reyes   +2 more
doaj  

Rare genetic diseases of the bone tissue: the case of a family with osteogenesis imperfecta and X-linked hypophosphataemia

Остеопороз и остеопатии, 2018
Osteogenesis imperfecta (OI) and X-linked hypophosphataemia (XLH) are rare genetic diseases, which lead to childhood-onset bone fragility, low-trauma fractures and limb deformities. OI occurs as a result of impaired type 1 collagen synthesis at different
Irina Yu. Popova, Tatiana A. Grebennikova, Anatoly N. Tiulpakov, Kristina S. Kulikova, Liudmila Y. Rozhinskaya, Zhanna E. Belaya   +5 more
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Flow cytometry-based diagnosis of primary immunodeficiency diseases

Allergology International, 2018
Primary immunodeficiencies (PIDs) are a heterogeneous group of inherited diseases of the immune system. The definite diagnosis of PID is ascertained by genetic analysis; however, this takes time and is costly.
Hirokazu Kanegane, Akihiro Hoshino, Tsubasa Okano, Takahiro Yasumi, Taizo Wada, Hidetoshi Takada, Satoshi Okada, Motoi Yamashita, Tzu-wen Yeh, Ryuta Nishikomori, Masatoshi Takagi, Kohsuke Imai, Hans D. Ochs, Tomohiro Morio   +13 more
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X-Linked Adrenoleukodystrophy in a Moroccan Patient: Genetic Diagnosis Leads to Presymptomatic Testing and Family Counseling

Balkan Journal of Medical Genetics
X-linked adrenoleukodystrophy (X-ALD) is a fatal neurodegenerative disorder caused by mutations in the adenosine triphosphate-binding cassette D1 (ABCD1) gene. In this study, we report the case of a Moroccan patient diagnosed with X-ALD due to a mutation
Mansouri M, Smol T, Louhabe N, Rama M, Rada N, Fdil N, Bouskraoui M, Aboussair N   +7 more
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