June 2020 in “Annals of the Rheumatic Diseases” This observational study concluded that anti-Ku antibodies do not specifically indicate any systemic autoimmune disease or associated clinical phenotype.
12 citations
,
June 2020 in “Lupus” This study found that treating a murine model of systemic lupus erythematosus with early and optimally dosed mesenchymal stem cells effectively suppressed disease severity.
23 citations
,
October 2021 in “AAPS PharmSciTech” 5 citations
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September 2021 in “Clinical case reports” This case report documents the first known instance of Graham‐Little Piccardi Lassueur Syndrome in Saudi Arabia, observed in an adult dark-skinned male.
211 citations
,
March 2011 in “Journal of Lipid Research” This study reports a novel LC/MS method that separates and analyzes all known ceramide subclasses in human stratum corneum, identifying a new subclass, CER [EOdS], with minimal sample preparation.
18 citations
,
January 2018 in “BMC dermatology” This paper describes a case of epidermolysis bullosa simplex with muscular dystrophy associated with a novel PLEC mutation and diffuse alopecia, highlighting a potential genetic link that remains uncertain.
23 citations
,
January 1996 in “Software Engineering and Knowledge Engineering” This study hypothesizes a possible association between certain endocrine abnormalities and 11q-syndrome, emphasizing the importance of early diagnosis and management to improve patient quality of life.
January 2024 in “Wiadomości Lekarskie” In this study, a child's diagnosis of Silver-Russell syndrome was confirmed through phenotype data, genetic testing, and the exclusion of other developmental conditions, revealing a need for a multidisciplinary care approach.
November 2025 in “Biocell” This article explores how the integrated stress response and senescence-associated secretory phenotype influence stem cell fate decisions, highlighting their dual roles in both protecting and disrupting stem cell integrity.
November 2022 in “Journal of Investigative Dermatology” In this study, analysis of over 800 Iranian patients with epidermolysis bullosa identified 15 with pathogenic PLEC variants, highlighting a correlation between variant locations and phenotypic manifestations of plectinopathies.
33 citations
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March 2018 in “Italian Journal of Dermatology and Venereology” This article reviews clinical and histopathological aspects of cutaneous lupus erythematosus and its treatment, emphasizing the importance of photoprotection and outlining current therapies, but reports no new experimental results.
August 2019 in “Reactions Weekly” Daclizumab may cause psoriasis-like skin problems in multiple sclerosis patients.
18 citations
,
June 2014 in “Anais Brasileiros de Dermatologia” This case report describes a patient with Clouston Syndrome who developed eccrine syringofibroadenoma, marking only the fourth such association documented in existing literature.
5 citations
,
September 2017 in “Medicine” In this case report, a patient with Cronkhite-Canada Syndrome developed colon cancer and liver metastasis despite hormone therapy, highlighting the need for regular monitoring and early detection strategies.
February 2025 in “Gastroenterology” Corticosteroids improved symptoms in a man with Cronkhite-Canada Syndrome.
12 citations
,
December 2002 in “Archives of Dermatology” This case report describes a 49-year-old woman with Sweet syndrome who experienced complete resolution of skin lesions after a prednisone treatment regimen.
2 citations
,
November 2006 in “APLAR Journal of Rheumatology” This article narrates the author's personal journey with systemic lupus erythematosus over 15 years, highlighting the challenges and strategies for managing this complex disease and maintaining quality of life.
1 citations
,
April 1983 in “Trends in Biochemical Sciences”
June 2023 in “British Journal of Dermatology” This study reports a unique case of coinheritance of BRCA2 and CYLD pathogenic variants in a man with metastatic malignant cylindroma, suggesting that recognizing such genetic profiles in rare conditions can provide new treatment options, including the potential use of therapies targeting BRCA deficiency.
January 2024 in “Pakistan Journal of Medicine and Dentistry” This case report describes the co-existence of Celiac Disease and Systemic Lupus Erythematosus in an 18-year-old girl, managed with a gluten-free diet, steroids, and hydroxychloroquine.
5 citations
,
November 2021 in “Saudi medical journal” This report describes three Saudi sisters with Woodhouse-Sakati syndrome, who exhibited typical features of the condition along with unusual gynecological anomalies.
6 citations
,
December 2019 in “Frontiers in genetics” In this study, animal model observations suggested that GLI1 expression may reduce cSCC initiation but is not involved in the tumor's aggressiveness.
This case report describes a 33-year-old Kashmiri woman with Woodhouse-Sakati syndrome who has a rare DCAF17 gene mutation, c.321+1G>A, providing further evidence for its role in the genetic basis of this neuroendocrine disorder.
April 2024 in “BMB Reports” This study used Cisd2 knockout mice models and found that these mice display premature aging characteristics and an increase in dysfunctional neutrophils, suggesting Cisd2's role in calcium homeostasis and neutrophil function via interactions with Calnexin and SERCA.
15 citations
,
January 2014 in “Dermatology” This case report describes alopecia universalis-like hair loss occurring in two patients with cutaneous T cell lymphoma, providing clinical, dermoscopic, and pathologic features to help differentiate it from alopecia areata universalis.
54 citations
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April 2011 in “Journal of Multidisciplinary Healthcare” This study found that African-American and Hispanic patients with systemic lupus erythematosus reported higher levels of unmet psychological needs and may be more prone to depression and anxiety due to SLE-related challenges.
May 2022 in “Journal of Neurology Neurosurgery & Psychiatry” This case report highlights the overlap of Sjögren’s Syndrome and Systemic Lupus Erythematosus, noting major salivary gland enlargement and bilateral facial nerve involvement, which may better explain the patient's symptoms than lupus alone.
36 citations
,
September 2013 in “PLoS ONE” This study found that sweat gland stem cells primarily maintain sweat gland homeostasis but can trans-differentiate to aid in epidermal healing and regenerate diverse skin structures under certain conditions.
3 citations
,
May 2024 in “BMC Medical Genomics” This study is the first to identify a de novo heterozygous frameshift insertion variant in the ARID1B gene as a cause of Coffin-Siris syndrome with an association to excessive early-onset high myopia.
2 citations
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August 2012 in “Journal of the American Academy of Dermatology” This correspondence describes two patients with both epidermolysis bullosa simplex, Dowling-Meara type, and loose anagen hair syndrome, an association not previously reported in the literature.