Results 171 to 180 of about 105,745 (267)

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

Chlorophyll reconstitution of photosynthetic light-harvesting complexes. [PDF]

Plant Cell Physiol
Saga Y, Kawato S, Harada J.
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

Acta Crystallographica Section B welcomes three new Co-editors. [PDF]

Acta Crystallogr B Struct Sci Cryst Eng Mater
Dawe L, Katrusiak A, Nangia A, Berry A.
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

Self‐assembled Helical Tetramer Stack of Terrylene Bisimide in Solution and Crystalline State

Angewandte Chemie, EarlyView.
A TBI with sterically demanding imide substituents self‐assembles in solution into a defined helical tetramer π‐stack. Both the monomer and the tetramer can form complexes with polycyclic aromatic guest molecules, resulting in the formation of tri‐ or hexalayer in solution and in the crystalline solid state.
Simon Soldner, Kazutaka Shoyama, Matthias Stolte, Frank Würthner   +3 more
wiley   +2 more sources

An Exploratory Study on the Impact of MIPEF-Assisted Extraction on Recovery of Proteins, Pigments, and Polyphenols from Sub-Standard Pea Waste. [PDF]

Foods
Plazzotta S, Saitta A, Melchior S, Manzocco L.   +3 more
europepmc   +1 more source