Results 101 to 110 of about 631,764 (332)

Chemical Tomography of Cancer Organoids and Cyto‐Proteo‐Genomic Development Stages Through Chemical Communication Signals

Advanced Materials, EarlyView.
This article presents a non‐destructive molecular encoding approach using hierarchical array of functionalized graphene‐based sensors for spatiotemporal analysis of volatile signaling molecules. Combined with deep learning, this method enables real‐time imaging and genetic profiling of organoids, deciphering molecular production pathways through ...
Arnab Maity, Vivian Darsa Maidantchik, Keren Weidenfeld, Sarit Larisch, Dalit Barkan, Hossam Haick   +5 more
wiley   +1 more source

Biallelic GTF2IRD1 variants in brothers with profound neurodevelopmental disorder: A possible novel disorder involving a critical gene for Williams syndrome

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 332-337, February 2023., 2023
Abstract GTF2IRD1, a gene on chromosome 7 which encodes a transcription factor, is of significant clinical interest due to its heterozygous loss as part of the classical deletion associated with Williams–Beuren syndrome (WBS). However, biallelic variants in GTF2IRD1 alone as part of an autosomal recessive disease have not been previously reported. Here,
Christopher Thomas Cummings, Lois Janelle Starr   +1 more
wiley   +1 more source

Atypical Cutaneous Viral Infections Reveal an Inborn Error of Immunity in 8 Patients

Microorganisms, 2023
Unusual viral skin infections might be the first clinical manifestation in children with an inborn error of immunity (IEI). We performed a prospective study from 1 October 2017 to 30 September 2021, at the Department of Pediatric Infectious Diseases and ...
Assiya El Kettani, Fatima Ailal, Farida Marnissi, Fouzia Hali, Jalila El Bakkouri, Ibtihal Benhsaien, Tom Le Voyer, Mame Sokhna Guèye, Rémi Chevalier, Soumiya Chiheb, Khalid Zerouali, Emmanuelle Jouanguy, Jean-Laurent Casanova, Ahmed Aziz Bousfiha   +13 more
doaj   +1 more source

Consensus Middle East and North Africa Registry on Inborn Errors of Immunity [PDF]

, 2021
Background: Inborn errors of immunity (IEIs) are a heterogeneous group of genetic defects of immunity, which cause high rates of morbidity and mortality mainly among children due to infectious and non-infectious complications.
Abolnezhadian, F, Adeli, M, Aghamohammadi, A, Ahanchian, H, Ahmadiafshar, A, Akbari, H, Al-Ahmed, M, Al-Nesf, M, Al-Tamemi, S, Aleyasin, S, Amin, R, Arshi, S, Attal, N, Azizi, G, Babaie, D, Barbouche, R, Baris, S, Bazargan, N, Bazregari, S, Behmanesh, F, Behniafard, N, Belaid, B, Belbouab, R, Bemanian, MH, Boukari, R, Bousfiha, A, Chavoshzadeh, Z, Cheraghi, T, Dabbaghzadeh, A, Darabi, B, Darabi, K, Darougar, S, Delavari, S, Djenouhat, K, Djidjik, R, Elnagdy, MH, Eslamian, MH, Fallahpour, M, Faridhosseini, R, Fathi, SM, Fayezi, A, Ferhani, Y, Genel, F, Ghaffari, J, Ghalebaghi, B, Ghasemi, R, Gulez, N, Hassen, A, Heidarzadeh, M, Irani, C, Jabbari-Azad, F, Kalantari, A, Kalmarzi, RN, Karakoc-Aydiner, E, Kashef, S, Kechout, N, Khalili, A, Khayatzadeh, A, Khoshkhui, M, Kilic, SS, Kose, H, Kutukculer, N, Ladj, S, Mahdaviani, SA, Mansouri, M, Megarbane, A, Mehawej, C, Mesdaghi, M, Moghtaderi, M, Mohammadzadeh, I, Molatefi, R, Momen, T, Mortazavi, SH, Nabavi, M, Nasrullayeva, G, Ozen, A, Quinn, J, Reisli, I, Rezaei, N, Rizk, R, Sadeghi-Shabestari, M, Safari, M, Saidani, K, Sajedi, V, Shafiei, A, Shakerian, B, Sherkat, R, Shirkani, A, Sobh, A, Soheili, H, Tafaroji, J, Taghvaei, B, Tahiat, A, Tavakol, M, Tavassoli, M, Topyildiz, E, Torabizadeh, M, Yazdani, R, Zandieh, F, Zandkarimi, M   +99 more
core  

The Placenta Regulates Intrauterine Fetal Growth via Exosomal PPARγ

Advanced Science, EarlyView.
The placenta expresses much higher levels of PPARγ than fetal adipose tissue. Trophoblastic exosomes transport PPARγ into fetal preadipocytes via fetoplacental circulation and thus regulate adipogenic genes distinct from endogenous PPARγ. Compromised placental PPARγ leads to fetal adipogenesis deficiency and intrauterine growth restriction, reversible ...
Xiaofang Luo, Biao Huang, Ping Xu, Hao Wang, Baozhen Zhang, Li Lin, Jiujiang Liao, Mingyu Hu, Xiyao Liu, Jiayu Huang, Yong Fu, Mark D. Kilby, Rodney E. Kellems, Xiujun Fan, Yang Xia, Philip N. Baker, Hongbo Qi, Chao Tong   +17 more
wiley   +1 more source

Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 378-390, February 2023., 2023
Abstract Bladder exstrophy is a rare congenital malformation leaving the urinary bladder open in the midline of the abdomen at birth. There is a clear genetic background with chromosome aberrations, but so far, no consistent findings apart from 22q11‐duplications detected in about 2%–3% of all patients.
Agneta Nordenskjöld, Samara Arkani, Maria Pettersson, Johanna Winberg, Jia Cao, Magdalena Fossum, Magnus Anderberg, Gillian Barker, Gundela Holmdahl, Johanna Lundin   +9 more
wiley   +1 more source

Hailey-Hailey disease: clinical, diagnostic and therapeutic update [PDF]

Anais Brasileiros de Dermatologia
Hailey-Hailey disease is a rare genodermatosis described in 1939, with an autosomal dominant inheritance pattern, characterized by compromised adhesion between epidermal keratinocytes.
Adriana Maria Porro, Camila Arai Seque, Denise Miyamoto, Diego Vanderlei Medeiros da Nóbrega, Milvia Maria Simões e Silva Enokihara, Claudia Giuli Santi   +5 more
doaj   +1 more source

Understanding Morality in the Religion-and-Science Context [PDF]

, 2012
Recent developments in biotechnology require re/definition of human \"being.\" In this paper, the author suggests that the term \"human being \" is substituted with \"human betweenness.\" This substitution emerges from a philosophical/theological reading
Park, Iljoon
core   +1 more source

Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis : A study from Tawam Hospital Metabolic Center, United Arab Emirates [PDF]

, 2014
Objectives: This study aimed to determine the mutation spectrum and prevalence of inborn errors of metabolism (IEM) among Emiratis. Methods: The reported mutation spectrum included all patients who were diagnosed with IEM (excluding those with lysosomal ...
Al-Hamad, Sania, Al-Jasmi, Fatma, Al-Shamsi, Aisha, Hertecant, Jozef L., Souid, Abdul-Kader   +4 more
core   +3 more sources

Treg in inborn errors of immunity: gaps, knowns and future perspectives

Frontiers in Immunology
Regulatory T cells (Treg) are essential for immune balance, preventing overreactive responses and autoimmunity. Although traditionally characterized as CD4+CD25+CD127lowFoxP3hi, recent research has revealed diverse Treg subsets such as Tr1, Tr1-like, and
Rebeca Kennedy-Batalla, Daniel Acevedo, Yiyi Luo, A. Esteve-Solé, A. Vlagea, R. Correa-Rocha, M. E. Seoane-Reula, L. Alsina   +7 more
semanticscholar   +1 more source