1 citations
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July 2024 in “International Journal of Biological Research” This study found that a high percentage of pediatric sickle cell disease patients have parents from medium-high socioeconomic status, indicating that the educational background of parents did not influence the disease's prevalence.
This case report describes a six-year-old child with congenital biotinidase deficiency whose symptoms, including breathlessness, alopecia, and hearing loss, were reversed with biotin supplementation.
February 2025 in “Cureus” This case report describes a 37-year-old female with non-classical congenital adrenal hyperplasia who presented with severe acne, progressive hair loss, and primary infertility, managed with prednisolone.
August 2023 in “Acta Scientific Paediatrics” This case study reported a neonate of Indian descent with localized hypotrichosis type 1 due to a likely pathogenic deletion in the DSG4 gene, marking the first such case from India.
June 2023 in “International Journal of Research in Medical Sciences” This case report describes the first confirmed instances of X-linked adrenomyeloneuropathy/adrenoleukodystrophy in two brothers from Bangladesh, noting their progressive neurological symptoms, MRI findings, and differing disease outcomes over several years of observation.
In this thesis, researchers explored ways to enhance the management of myotonic dystrophy type 1 by investigating the genetic inheritance patterns, especially small-sized repeat expansions, and assessing cardiac care, energy expenditure, and body composition in affected individuals.
Among females with nonclassical 21-hydroxylase deficiency, this study found that low-dose glucocorticoid treatment improved fertility outcomes by increasing pregnancy and live birth rates while reducing miscarriage rates.
August 2022 in “Frontiers in genetics” This study identified a novel bi-allelic missense variant in the DSC3 gene linked to severe Hypotrichosis with Recurrent Skin Vesicles in a Saudi child, supporting its role in the condition.
August 2021 in “Journal of medical science and clinical research” This case report describes an 11-month-old infant with Biotinidase deficiency who exhibited multifocal seizures, neuroregression, alopecia, and skin issues, highlighting prompt diagnosis and the dramatic clinical response to biotin treatment.
August 2018 in “Journal of The American Academy of Dermatology” The study concluded that a new method can effectively assess scalp sun damage in balding men, which increases with age and sun exposure.
July 2017 in “Contemporary Endocrinology” This article discusses the ongoing care needs for individuals with 21-hydroxylase deficiency due to mutations in the CYP21A2 gene but does not present new clinical findings.
September 2009 in “Pediatric Dermatology” This meeting abstract volume for the Society for Pediatric Dermatology reports no new clinical results.
66 citations
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June 2018 in “British Journal of Dermatology” These guidelines review the management of complications and specific forms of congenital ichthyosis and report no new results; they summarize expert and evidence-based recommendations for clinicians.
2295 citations
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August 2012 in “The international journal of transgenderism/International journal of transgenderism” This publication reviews the World Professional Association for Transgender Health's Standards of Care for supporting transgender and gender nonconforming people, with adjustments needed for diverse global contexts and no new clinical results.
1533 citations
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October 2008 in “Endocrine reviews” This research highlights that engineered mice lacking the vitamin D receptor show multiple health issues similar to human vitamin D deficiency, underscoring the widespread impacts of the vitamin D endocrine system.
480 citations
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August 2014 in “Nature Biotechnology” This review discusses manipulating the stem cell niche as a strategy in regenerative medicine to repair damaged tissues, highlighting the potential benefits and challenges but reporting no new results.
434 citations
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October 2003 in “PTR. Phytotherapy research/Phytotherapy research” This review discusses the use of natural products in cosmetic preparations for skin and hair care, but reports no new research results.
288 citations
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June 2009 in “Human reproduction update” This review examines various methods for assessing hair growth in women, highlighting the usefulness of the mFG visual scoring method for diagnosing hirsutism despite its limitations.
179 citations
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April 2012 in “Nature Communications” This study demonstrates the potential of using bioengineered follicles from adult tissue-derived stem cells for fully functional hair regeneration, illustrating possible applications in organ replacement therapy.
137 citations
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October 2009 in “The American journal of pathology” This study found that matriptase, a membrane serine protease, is crucial for maintaining multiple types of epithelial tissues in mice, with its absence leading to severe organ dysfunction and increased permeability.
129 citations
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November 2005 in “Internal Medicine Journal” This article reviews the recognition and management of Staphylococcus aureus toxin-mediated diseases, but it does not present new research findings.
122 citations
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June 2002 in “Genes & Development” This study found that K17 is crucial for the structural integrity and survival of hair-producing cells, with K17 null mice developing alopecia due to hair fragility and follicular alterations.
120 citations
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August 2008 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that C8/144B antibody exclusively binds to the hair follicle bulge and not the epidermal stratum basale, with cytokeratin 19 serving as a key marker of certain basal keratinocytes that decrease with age.
118 citations
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August 2010 in “Developmental Cell” This study found that the protein MIM is crucial for maintaining cilia and Sonic hedgehog signaling in mesenchymal cells by counteracting Src-mediated phosphorylation of Cortactin, impacting hair follicle formation.
103 citations
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October 2003 in “Birth Defects Research” This review discusses the multifactorial etiology of hypospadias, including genetic predispositions and possible environmental factors, and highlights the need for further studies on genetic and environmental contributions to its increasing prevalence, without presenting new findings.
101 citations
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July 2020 in “Dermatologic therapy” This systematic review reports that "COVID toes" and other skin manifestations can be initial signs of COVID-19, and advises immunosuppressive therapy adjustments only for infected or at-risk patients.
96 citations
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September 2017 in “Analytica Chimica Acta” This review discusses the growing use of scalp hair for elemental analysis in various fields and highlights advancements in analysis techniques, including the future potential of laser ablation ICP-MS, but reports no new clinical results.
88 citations
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May 2012 in “Human Reproduction Update” This review discusses WHO group 2 anovulation, highlighting polycystic ovary syndrome as a common cause of infertility and noting current treatment options without presenting new clinical results.
87 citations
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September 2019 in “Nature Communications” In this study, researchers identified that upon tissue injury in a mouse model, epidermal cells at the wound edge convert to an embryonic-like state with SOX11 and SOX4 playing a central role in modulating epidermal development and cell migration genes.
87 citations
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January 2017 in “PLoS Genetics” This study found that simultaneously inhibiting both KLK5 and KLK7 proteases completely rescued skin barrier defects in a mouse model of Netherton syndrome, suggesting both should be therapeutic targets.