Results 161 to 170 of about 164,771 (306)

Low-level mosaic variants causing the pancreatic disease congenital hyperinsulinism can be detected from blood DNA. [PDF]

EBioMedicine
Bennett JJ, Laver TW, Männistö JME, Houghton JAL, De Franco E, Kalyon O, Wright S, Johnson AM, De Leon DD, Globa E, Kummer S, Banerjee I, Dastamani A, International Congenital Hyperinsulinism Consortium, Wakeling MN, Johnson MB, Flanagan SE.   +16 more
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

Melatonin Levels in 89 Individuals With Smith Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In patients with Smith–Magenis syndrome (SMS), an inverted circadian rhythm of melatonin (MT) contributes to the sleep disturbance. Standard treatment of sleep disturbance with MT often leads to extremely high daytime MT levels, resulting in even more sleep disorders. We therefore retrospectively evaluated the MT data of 89 SMS patients.
Wiebe Braam, Ann C. M. Smith
wiley   +1 more source

Platelet-Derived Granules and Extracellular Vesicles in Neurodegenerative Diseases: Neurovascular Mechanisms and Clinical Implications. [PDF]

Cells
Lee BK, Yoo JR, Jung YS.
europepmc   +1 more source

Mass Cytometry Reveals Comparable Proportions of Leukocyte Subsets and Cell Surface P2X7 or CD39 on Human Peripheral Blood Mononuclear Cell Samples Isolated by Ficoll-Paque or SepMate Tube Density Gradient Centrifugation. [PDF]

Cells
Elhage A, Gunasegaran B, Smith N, Turner RJ, Watson D, McGuire HM, Sluyter R.   +6 more
europepmc   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Decoding the Causal Effects of Blood-Related Phenotypes in Hypertrophic Scars and Keloids: A Mendelian Randomization Study. [PDF]

Clin Cosmet Investig Dermatol
Zhou F, Zeng G.
europepmc   +1 more source

Flow Cytometric Profiling Reveals Platelet Dysfunction and Impaired Immune Communication in Acute and Chronic Cerebrovascular Disease. [PDF]

J Clin Lab Anal
Shen CL, Huang LY, Chen JK, Tsai ST, Wu YF.   +4 more
europepmc   +1 more source

Inflammatory Signatures Beyond Th1/Th2 Endotypes Provide Insights Into Postoperative Recurrence in Chronic Rhinosinusitis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) represents a spectrum of inflammatory endotypes, driven by distinct T helper (Th) immune responses. The high rate of recurrent disease despite appropriate medical and surgical interventions highlights the need for improved characterization beyond the traditional type 2 and non‐type 2 phenotypes to better
Liyona Kampel, Narin N. Carmel, Shaun Edalati, Hen Chaushu, Forsan Jahshan, Yaniv Hadi, Timur Pestrikov, Leonor Leider Trejo, Nidal Muhanna, Avraham Abergel   +9 more
wiley   +1 more source

Diagnostic performance of eosinopenia for identifying bacterial infections in the emergency department: a prospective multicenter study. [PDF]

BMC Emerg Med
Lavoignet CE, Bilbault P, Lefebvre F, De Carlo V, Bejinariu L, Chevrolet-Lavoignet J, Schweitzer F, Zayet S, Dussert P, Abensur Vuillaume L, Le Borgne P.   +10 more
europepmc   +1 more source