Results 101 to 110 of about 3,860 (243)

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi, Bhavi P. Modi, Phillip A. Richmond, Massimo Mangino, Loryn Byres, Cassie McDonald, Joshua Dalmann, Simran Samra, Kate L. Del Bel, Anna Lehman, Jessica L. Zambonin, Stuart E. Turvey   +11 more
wiley   +1 more source

Squamous Cell Carcinoma Arising from Epidermal Inclusion Cyst of Breast: Imaging Findings and Literature Review. [PDF]

J Korean Soc Radiol, 2023
Han YJ, Kim YM.
europepmc   +1 more source

Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR‐Gene Family

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Bladder exstrophy and epispadias complex (BEEC) is one of the most severe congenital malformations of the urogenital tract, significantly impacting continence, sexual function, and renal function. To date, the only recurrent genetic aberration identified is the 22q.11.2 microduplication, but several candidate regions and genes including ...
Agneta Nordenskjöld, Samara Alm, Jesper Eisfeldt, Jia Cao, Magnus Anderberg, Gillian Barker, Hans Matsson, Gundela Holmdahl, Anna Lindstrand, Kristina Lagerstedt‐Robinson   +9 more
wiley   +1 more source

Erratum to epidermal inclusion cyst in the thyroid gland. [PDF]

Stem Cell Investig, 2021
Editorial Office.
europepmc   +1 more source

Advances and Challenges in Micro/Nanocarrier‐Based Dermal Drug Delivery Systems for Acne Treatment

Advanced NanoBiomed Research, EarlyView.
Topical acne treatment faces challenges from skin barriers and complex causes. Micro/nanocarriers improve drug delivery by enhancing bioavailability, targeting, and duration. Combining carriers creates synergistic effects for systematic intervention.
Jintao Yang, Jie Chen, Yunmiao Ma, Qingwei Zhou, Yu Kong, Yingxiang Chen, Junjie Chi, Haihua Hu   +7 more
wiley   +1 more source

Long Non‐Coding RNA H19 mediates STAT3 dependent activation of keratinocytes and fibroblasts in Systemic Sclerosis skin

Arthritis &Rheumatology, Accepted Article.
Objective Dermal Systemic Sclerosis (SSc) fibroblasts and their exosomes can activate keratinocytes in SSc, with lncRNA H19 (H19) highlighted as the most upregulated RNA in their cargo compared to healthy control (HC). The role of H19 in SSc pathogenesis has never been investigated.
Begoña Caballero‐Ruiz, Christopher W Wasson, Rebecca L Ross, Francesco Del Galdo   +3 more
wiley   +1 more source

Epidermal inclusion cyst

, 2022
  +4 more sources

Optimizing biophysical properties of cellular niches to enhance stem cell‐derived extracellular vesicle function in musculoskeletal regeneration

BMEMat, EarlyView.
Extracellular vesicles (EVs) derived from stem cells show promise for applications in regenerative medicine, but their scalability and yield remain challenges. This review explores the approaches for biophysical modulations within cell niches on EV properties, discusses the current clinical application of EVs, and provides an outlook on the existing ...
Yang Xu, Chung Yin Matthew Cheung, Liling Liu, Hoi Pan Harry Cheung, Kam Yu Tam, Dai Fei Elmer Ker, Sarah H. Cartmell, Chuanbin Mao, Zhiyong Zhang, Dan Michelle Wang   +9 more
wiley   +1 more source

Incidental Sacral Meningocele in an Elderly Patient Diagnosed After Epidermal Inclusion Cyst Removal: A Case Report. [PDF]

Cureus, 2022
Morimoto T, Kitagawa M, Koyanagi M, Kato K, Tsuzuki S, Yamamoto T, Yamada K.   +6 more
europepmc   +1 more source

Exosome as bioactive nanovesicle for diagnostic and therapeutic applications in periodontitis

BMEMat, EarlyView.
This review introduces the mechanism that exosomes participate in the pathogenesis of periodontitis and their potential as biomarkers for early diagnosis and summarizes the application of cell‐ or plant‐derived exosomes or engineered exosomes in periodontitis or periodontal regeneration while proposing the perspective of translational application of ...
Yu Wang, Yuchen Li, Yunfan Zhang, Chenshuang Li, Yifan Lin, Si Chen, Bing Han   +6 more
wiley   +1 more source