Results 51 to 60 of about 43,716 (267)

Dysregulation of the PATZ1/CTCF Balance Silences ZBTB20 to Drive Melanoma Progression

Advanced Science, EarlyView.
This study uncovers a new oncogenic mechanism in melanoma. The transcription factor PATZ1 competes with the architectural protein CTCF for DNA binding, thereby disrupting a specific chromatin loop and silencing the tumor suppressor ZBTB20. This event unleashes the pro‐tumorigenic PMEPA1‐p38‐STAT1 signaling axis, promoting cancer progression.
Chaowei Deng, Shuang Cai, Chen Guo, Shaker Khan, Lefan Liu, Qiong Tian, Zhiyuan Ma, Jian Zhang, Lingyu Zhao   +8 more
wiley   +1 more source

Congenital bilateral symmetric Becker's nevus with neurological involvement

Indian Journal of Paediatric Dermatology, 2016
Becker's nevus is an epidermal nevus presenting as hyperpigmented macules. Onset in infancy, bilateral distribution, location on forearms, and associated neurological manifestations makes this case of Becker's nevus worth reporting.
Minu Jose Chiramel, Roshni Menon, Brinda G David, Sandhya Panjeta Gulia   +3 more
doaj   +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

Epithelioid Cell Histiocytoma – An Unusual Variant of Dermatofibroma at an Uncommon Site [PDF]

, 2011
Epithelioid cell histiocytoma (ECH) is a rare variant of cutaneous fibrous histiocytoma involving primarily trunk and the extremities. It can delude the pathologist in considering other benign non neoplastic and neoplastic lesions.
K, Amita, KC, Nischal, VS, Shulbha
core   +1 more source

Nonscanning large-area Raman imaging for ex vivo/in vivo skin cancer discrimination

, 2018
Imaging Raman spectroscopy can be used to identify cancerous tissue. Traditionally, a step-by-step scanning of the sample is applied to generate a Raman image, which, however, is too slow for routine examination of patients. By transferring the technique
Darvin, Maxim E., Gersonde, Ingo, Moralejo, Benito, Roth, Martin M., Schleusener, Johannes, Schmälzlin, Elmar, Thiede, Gisela   +6 more
core   +1 more source

Prenatal ultrasound screening for fetal anomalies and outcomes in high-risk pregnancies due to maternal HIV infection : a retrospective study [PDF]

, 2013
Objective: To assess the prevalence of prenatal screening and of adverse outcome in high-risk pregnancies due to maternal HIV infection. Study design: The prevalence of prenatal screening in 330 pregnancies of HIV-positive women attending the ...
Buxmann, Horst, Haberl, Annette Elisabeth, Herrmann, Eva, Louwen, Frank, Reitter, Anke, Schlößer, Rolf Lambert, Stücker, Anja-Undine   +6 more
core   +2 more sources

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Bilateral Ota nevus in a 15 years old patient [PDF]

, 2013
Nevus of Ota is a dermal melanocytosis, clinically localizedon skin that is innervated by the first and secondbranches of the trigeminal nerve. It occurs almost entirelyin Asian people.
Haydar Uçak, İlker Erden, Savaş Öztürk   +2 more
core   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

A Metastasizing Squamous Cell Carcinoma Arising in a Solitary Epidermal Nevus

Case Reports in Dermatological Medicine, 2012
Aim. Secondary tumor rarely develops from epidermal nevus. We present a case of a metastasizing squamous cell carcinoma that developed in a solitary epidermal nevus. Case Report.
Masami Toya, Yuichiro Endo, Akihiro Fujisawa, Miki Tanioka, Yoshiaki Yoshikawa, Takao Tachibana, Yoshiki Miyachi   +6 more
doaj   +1 more source