118 citations
,
October 2013 in “Trends in Genetics” The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
100 citations
,
November 2021 in “Cell Research” This study found that SARS-CoV-2 hijacks the host factor IGF2BP1 to stabilize its RNA and enhance translation, and identified Cepharanthine and Trifluoperazine as potential treatments against the virus.
87 citations
,
July 2018 in “Biochimica et Biophysica Acta (BBA) - Molecular Cell Research” This review discusses the essential roles and complex regulation of PP2A in various physiological processes and reports no clinical results; the authors highlight the need for further mouse model research to explore PP2A's therapeutic potential.
84 citations
,
December 2018 in “Genetics in Medicine” This article reviews evidence- and consensus-based recommendations for using pegvaliase in adults with PKU and reports no new clinical results.
80 citations
,
March 2004 in “Neuropediatrics” This article presents an update on a family with Coats' plus disorder, documenting additional symptoms and two new similar cases, and reviews literature suggesting a link to dyskeratosis congenita for potential molecular insights.
76 citations
,
July 2019 in “Cellular and Molecular Life Sciences” This article reviews the role of stem cells in tissue development, tumor formation, and organoid generation, and highlights the potential of epigenetic regulation in advancing regenerative medicine and cancer treatment, without presenting new experimental results.
60 citations
,
November 2009 in “General and Comparative Endocrinology” The researchers reported that during early embryogenesis and larval development in Silurana tropicalis, inhibiting steroidogenic enzymes cyp19 and srd5beta affects genes related to thyroid and reproductive systems.
57 citations
,
November 1987 in “Pediatric Dermatology” This article reviews common hair growth abnormalities in children, emphasizing the importance of distinguishing normal development from potential signs of metabolic disorders and indicates no new clinical results.
54 citations
,
April 2010 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” This review discusses 46,XY disorders of sex development caused by defects in androgen production and highlights the need for long-term care from experienced multidisciplinary teams, but it reports no new clinical findings.
53 citations
,
January 2011 in “Diabetes” The study found that severe insulin resistance and premature diabetes are common in patients with PCNT genetic defects, primarily affecting those over four years old, while not impacting early insulin signaling in adipocytes.
51 citations
,
May 2021 in “Nature Communications” This study found that ablating centrosomes in developing epidermis alters keratinocyte division without majorly affecting differentiation, suggesting early epidermal development is driven by high proliferation and cell delamination.
49 citations
,
January 2003 in “American Journal of Clinical Dermatology” This review discusses various pediatric hair loss conditions and treatments, highlighting the importance of a holistic approach and noting that no single treatment is universally effective.
47 citations
,
March 2016 in “Journal of dermatology” This review discusses various rare syndromes associated with ichthyosis and emphasizes the importance of understanding their molecular genetics and mechanisms for developing effective treatments and genetic counseling, but it reports no new clinical findings.
47 citations
,
January 2013 in “Indian Journal of Dermatology, Venereology and Leprology” This review examines the pathogenesis of premature hair graying and potential treatment avenues, but reports no new experimental outcomes, highlighting ongoing research challenges and hopes for drug development.
38 citations
,
December 2012 in “Journal of Cutaneous Pathology” This review discusses the significance of elastic tissue staining in dermatopathology, particularly for diagnosing primary elastic tissue disorders and other skin conditions, but reports no new clinical results.
31 citations
,
April 2019 in “Cell reports” This study found that human iPSC-derived melanocytes from vitiligo patients successfully integrated into mouse hair follicles and epidermis, demonstrating potential for personalized therapy for depigmentation.
30 citations
,
April 2007 in “Dermatologic Clinics” This review discusses the mechanisms by which isotretinoin and hormonal therapy treat acne through their effects on sebaceous glands, reporting no new clinical results.
29 citations
,
September 1989 in “Journal of The American Academy of Dermatology” This article describes cases of unusual scalp whorl patterns, including triple parietal and right temporal whorls, that were associated with normal development, and discusses theories of hair whorl development.
23 citations
,
February 2020 in “PLOS genetics” This study found that biallelic LSS mutations lead to congenital hypotrichosis and cataracts, with each tissue-specific loss of function observed in mouse models.
21 citations
,
June 2018 in “Current Opinion in Genetics & Development” This review discusses recent advancements in regenerative medicine, including functional organ regeneration and the creation of mini-organs, and reports no new clinical results.
15 citations
,
November 2022 in “Cell Death and Disease” In this study, the researchers identified CEP135 as a biomarker linked to poor sarcoma survival and suggested PLK1 as a potential therapeutic target for sarcoma patients with high CEP135 expression.
15 citations
,
December 2020 in “Pharmacology Research & Perspectives” This review discusses targeting host cell proteases as a novel approach to inhibit SARS-CoV-2 infection, highlighting transcriptional modulation and enzymatic inhibition as promising therapeutic strategies, but it reports no new clinical findings.
15 citations
,
September 2018 in “Medicine” This review discusses the causes and clinical presentations of ptosis in childhood and reports on several observed cases, but provides no new clinical results.
14 citations
,
October 2018 in “Brain Research Bulletin” This article reviews the role of exosomes in promoting axonal regeneration and discusses recent findings on how exosome-borne molecules might influence the PTEN-mTOR pathway in injured neurons; it reports no new experimental results.
14 citations
,
December 2010 in “Journal of human genetics” This study identified a severe MBTPS2 gene mutation in a Japanese patient with IFAP syndrome, suggesting other factors may influence the varied clinical severity of the condition.
13 citations
,
October 2024 in “Scientific Reports” In this study using data from young women in West Bengal, India, the researchers identified that leptin signaling impairment, insulin resistance, and specific gene mutations significantly contribute to PCOS, with obesity commonly manifesting in affected individuals.
12 citations
,
June 2016 in “Reviews in Endocrine and Metabolic Disorders” This review discusses various genetic and acquired skin diseases that can affect male fertility, highlighting the clinical management challenges and reports no new research findings.
11 citations
,
October 2021 in “Journal of Herbmed Pharmacology” This review examines the therapeutic benefits, chemical composition, and medicinal uses of Delphinium species, along with their toxic effects; it reports no new clinical results.
11 citations
,
March 2019 in “Journal of Medicinal Chemistry” This study reports that synthetic carbohydrate receptors effectively inhibit Zika virus infection in cell cultures by blocking early stages of viral entry.
11 citations
,
May 2011 in “World Journal of Pediatrics” The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.