Results 81 to 90 of about 38,345 (280)

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

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

A randomized, controlled, split-face, double-blind comparison of a multimodality pigment-correcting serum containing lotus sprout extract versus hydroquinone for moderate to severe facial hyperpigmentation, including melasma, in a diverse populationCapsule Summary

JAAD International
Background: Hyperpigmentation results in uneven skin tone, with darker skin types disproportionately affected. Objective: Assess efficacy and safety of a novel, hydroquinone (HQ)-free, multimodal pigment-correcting serum (Advanced Brightening Treatment ...
Priscilla Huang, BA, Summer F. Acevedo, PhD, Tsing Cheng, PhD, Rahul C. Mehta, PhD, Elizabeth T. Makino, BS, CCRA, MBA   +4 more
doaj   +1 more source

Melanosome Transport and Processing in Skin Pigmentation: Mechanisms and Targets for Pigmentation Modulation

Achieving even skin tone and controlling pigmentation are key goals in dermocosmetics, given the impact of disorders like melasma, post-inflammatory hyperpigmentation, and age spots.
Mengjing Bao, Mathias Gempeler, Remo Campiche   +2 more
core   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Case Report - Laugier-Hunziker pigmentation

, 2005
Laugier-Hunziker pigmentation (LHP) is an acquired disorder of hypermelanosis characterized by mucocutaneous hyperpigmentation. LHP may resemble various disorders characterized by mucocutaneous pigmentation.
C. Ajith, Sanjeev Handa
core   +1 more source

An in vitro investigation into the pigmentary phenotype of melanocytes and keratinocyte co-cultures to improve wound healing

, 2013
Includes abstract.Includes bibliographical references.On healing, partial-thickness burn wounds usually result in depigmentation of the skin. This is due to the loss of melanocytes.
Chang, Ju-Wei
core  

Supplementary Material for: Unilateral Congenital Lenticular Pigmentation

, 2023
Introduction Release of pigments in the anterior chamber is frequently observed in Pigment Dispersion Syndrome (PDS), an autosomal dominant disorder marked by bilateral pigment deposition on the anterior and possibly posterior lens capsule, zonules of ...
Alsaggaf A. (17440596), Al-Najmi Y. (15345034), AbdallaElsayed M.E.A. (17440599), Albeedh M. (15345046)   +3 more
core   +1 more source

Evaluation of cardiac histology and cell death markers during the progression of diabetes in a streptozotocin‐induced diabetes rat model

Animal Models and Experimental Medicine, EarlyView.
Daily insulin administration in streptozotocin‐induced diabetic rats prevented cardiac damage associated with diabetic cardiomyopathy, including hypertrophy, fibrosis, and expression of cell death markers, at 12 weeks. However, cyclophilin D, a marker of mitochondrial permeability transition pore‐opening‐associated cell death (necrosis), was observed ...
Tamara Sáez, Ivo Carrasco‐Wong, Juan Varas, Sebastián San Martín, Jaime A. Riquelme, Rienzi Díaz‐Navarro   +5 more
wiley   +1 more source