Results 171 to 180 of about 134,357 (248)

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

Melanin Metabolism: A Novel Oxidative Degradation Mechanism and Regulation by Hydrolyzed Conchiolin Protein. [PDF]

J Cosmet Dermatol
Zhao X, Zeng H, Zhu L, Gu L.
europepmc   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Spontaneous Resolution of Extensive Haemosiderin Skin Staining Following Iron Infusion During Pregnancy. [PDF]

Cureus
Barez T, de Vries B, Burton A.
europepmc   +1 more source

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

Control Strategies in Guanine Biocrystallization

Angewandte Chemie, EarlyView.
Biological guanine crystals produce spectacular photonic phenomena in animals and hold great promise as new, sustainable optical materials. We review how organisms precisely control the structure, morphologies, and resulting optical properties of these crystals using a set of ingenious ‘design’ strategies, including control of pH, template‐directed ...
Shashanka S. Indri, Avital Wagner, Benjamin A. Palmer   +2 more
wiley   +2 more sources

First observation of a leucistic bearded capuchin monkey (Sapajus libidinosus). [PDF]

Primates
Falótico T, Valença T.
europepmc   +1 more source

Tree shrew model of early diabetic retinopathy reveals microvascular dysfunction and identifies phosphoserine aminotransferase 1 as a novel therapeutic target

Animal Models and Experimental Medicine, EarlyView.
We developed an animal model of early diabetic retinopathy (DR) in the tree shrew by feeding a high‐fat and high‐sugar diet in combination with STZ. Physiological and biochemical index detection, hematoxylin and eosin staining, and transmission electron microscopy were performed to examine DR.
Min Qiu, Shurui Huo, Wenguang Wang, Na Li, Qingwei Zeng, Xiaomei Sun, Jiejie Dai, Pinfen Tong, Yuanyuan Han, Ling Zhao, Caixia Lu   +10 more
wiley   +1 more source

Challenges in the Diagnosis and Management of Nail Melanocytic Disorders. [PDF]

Clin Cosmet Investig Dermatol
Huang H, Dai XY, Pan LX, Song ZQ, Li L, Liu T.   +5 more
europepmc   +1 more source

Comparative virology and pathology of Monkeypox virus in Syrian hamsters, C57BL/6, and BALB/c mice: A framework for preclinical model selection

Animal Models and Experimental Medicine, EarlyView.
This study compared monkeypox virus (MPXV) infection in three small animal models: Syrian hamsters, C57BL/6 mice, and BALB/c mice. Following intraperitoneal inoculation, Syrian hamsters exhibited the highest susceptibility, with rapid systemic viral dissemination, elevated splenic and renal viral burdens, and severe histopathological damage, followed ...
Xiaohui Wei, Jing Wu, Hekai Yang, Na Li, Binbin Zhao, Wanjun Peng, Na Rong, Wei Zhang, Jing Xue, Jiangning Liu   +9 more
wiley   +1 more source