Ryland D. Mortlock
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View article: Erythrokeratodermia‐Cardiomyopathy Syndrome: Expanding the <i>DSP</i> Mutational Spectrum Beyond Proline Substitutions
Erythrokeratodermia‐Cardiomyopathy Syndrome: Expanding the <i>DSP</i> Mutational Spectrum Beyond Proline Substitutions Open
Erythrokeratodermia cardiomyopathy (EKC) syndrome is a rare autosomal dominant disorder characterized by generalized erythrokeratoderma and progressive dilated cardiomyopathy, caused by pathogenic variants in the SR6 domain of desmoplakin …
View article: Efficacy of interleukin-12/23 and interleukin-23 inhibitors in Hailey-Hailey disease
Efficacy of interleukin-12/23 and interleukin-23 inhibitors in Hailey-Hailey disease Open
View article: LZTR1 is a melanoma oncogene that promotes invasion and suppresses apoptosis
LZTR1 is a melanoma oncogene that promotes invasion and suppresses apoptosis Open
View article: A recurrent de novo damaging variant in <i>EMP2</i> causes progressive symmetric erythrokeratoderma
A recurrent de novo damaging variant in <i>EMP2</i> causes progressive symmetric erythrokeratoderma Open
Genetic investigation in Mendelian skin disorders featuring generalized or localized skin scaling and redness, known as the ichthyoses, has revealed novel pathways relevant to epidermal integrity, barrier function, and desquamation. Here, …
View article: 0571 Linear epidermal nevus caused by a novel mosaic heterozygous PTPN11 variant
0571 Linear epidermal nevus caused by a novel mosaic heterozygous PTPN11 variant Open
View article: 0523 Choice of dermal scaffold affects molecular differentiation of three-dimensional human epidermal equivalents
0523 Choice of dermal scaffold affects molecular differentiation of three-dimensional human epidermal equivalents Open
View article: 0541 Autosomal dominant SLURP1 variants cause palmoplantar keratoderma and progressive symmetric erythrokeratoderma
0541 Autosomal dominant SLURP1 variants cause palmoplantar keratoderma and progressive symmetric erythrokeratoderma Open
View article: Enhancing in vivo cell and tissue targeting by modulation of polymer nanoparticles and macrophage decoys
Enhancing in vivo cell and tissue targeting by modulation of polymer nanoparticles and macrophage decoys Open
View article: Impact of CRISPR/HDR editing versus lentiviral transduction on long-term engraftment and clonal dynamics of HSPCs in rhesus macaques
Impact of CRISPR/HDR editing versus lentiviral transduction on long-term engraftment and clonal dynamics of HSPCs in rhesus macaques Open
View article: Impact of CRISPR/HDR editing versus lentiviral transduction on long-term engraftment and clonal dynamics of HSPCs in rhesus macaques
Impact of CRISPR/HDR editing versus lentiviral transduction on long-term engraftment and clonal dynamics of HSPCs in rhesus macaques Open
View article: How Efforts to Understand Somatic Mosaicism Will Impact Dermatology
How Efforts to Understand Somatic Mosaicism Will Impact Dermatology Open
View article: Impact of CRISPR/HDR-editing versus lentiviral transduction on long-term engraftment and clonal dynamics of HSPCs in rhesus macaques
Impact of CRISPR/HDR-editing versus lentiviral transduction on long-term engraftment and clonal dynamics of HSPCs in rhesus macaques Open
For precise genome editing via CRISPR/homology-directed repair (HDR), effective and safe editing of long-term engrafting hematopoietic stem cells (LT-HSCs) requires both sufficient HDR efficiency and protection of LT-HSC function and numbe…
View article: Early observations with an ERAS pathway for thyroid and parathyroid surgery: Moving the goalposts forward
Early observations with an ERAS pathway for thyroid and parathyroid surgery: Moving the goalposts forward Open
View article: Assessment of Treatment-Relevant Immune Biomarkers in Psoriasis and Atopic Dermatitis: Toward Personalized Medicine in Dermatology
Assessment of Treatment-Relevant Immune Biomarkers in Psoriasis and Atopic Dermatitis: Toward Personalized Medicine in Dermatology Open
View article: Evaluating the medical management of locally advanced and metastatic basal cell carcinoma: A single institutional retrospective analysis investigating efficacy, safety, and tolerability
Evaluating the medical management of locally advanced and metastatic basal cell carcinoma: A single institutional retrospective analysis investigating efficacy, safety, and tolerability Open
To the Editor: Basal cell carcinoma (BCC) is the most common malignancy globally. Surgery is the first-line treatment. Advanced basal cell carcinoma (aBCC) encompasses metastatic and locally advanced (including large, deep, or aggressive) …
View article: The effect of baseline eczema or psoriasis on the morphology of cutaneous immune-related adverse events due to immune checkpoint inhibitor therapy
The effect of baseline eczema or psoriasis on the morphology of cutaneous immune-related adverse events due to immune checkpoint inhibitor therapy Open
View article: Expanded NK cells used for adoptive cell therapy maintain diverse clonality and contain long-lived memory-like NK cell populations
Expanded NK cells used for adoptive cell therapy maintain diverse clonality and contain long-lived memory-like NK cell populations Open
View article: Comparison of busulfan and total body irradiation conditioning on hematopoietic clonal dynamics following lentiviral gene transfer in rhesus macaques
Comparison of busulfan and total body irradiation conditioning on hematopoietic clonal dynamics following lentiviral gene transfer in rhesus macaques Open
View article: The spectrum of cutaneous immune-related adverse events in patients with skin of color
The spectrum of cutaneous immune-related adverse events in patients with skin of color Open
View article: Barcode clonal tracking of tissue-resident immune cells in rhesus macaque highlights distinct clonal distribution pattern of tissue NK cells
Barcode clonal tracking of tissue-resident immune cells in rhesus macaque highlights distinct clonal distribution pattern of tissue NK cells Open
Tissue resident (TR) immune cells play important roles in facilitating tissue homeostasis, coordinating immune responses against infections and tumors, and maintaining immunological memory. While studies have shown these cells are distinct…
View article: Tissue Trafficking Kinetics of Rhesus Macaque Natural Killer Cells Measured by Serial Intravascular Staining
Tissue Trafficking Kinetics of Rhesus Macaque Natural Killer Cells Measured by Serial Intravascular Staining Open
The in vivo tissue distribution and trafficking patterns of natural killer (NK) cells remain understudied. Animal models can help bridge the gap, and rhesus macaque (RM) primates faithfully recapitulate key elements of human NK cell biolog…
View article: Interrogation of clonal tracking data using barcodetrackR
Interrogation of clonal tracking data using barcodetrackR Open
View article: Dynamic Regulation of JAK-STAT Signaling Through the Prolactin Receptor Predicted by Computational Modeling
Dynamic Regulation of JAK-STAT Signaling Through the Prolactin Receptor Predicted by Computational Modeling Open
View article: <i>barcodetrackR</i>: an R package for the interrogation of clonal tracking data
<i>barcodetrackR</i>: an R package for the interrogation of clonal tracking data Open
Clonal tracking methods provide quantitative insights into the cellular output of genetically labelled progenitor cells across time and cellular compartments. In the context of gene and cell therapies, clonal tracking methods have enabled …
View article: Dynamic regulation of JAK-STAT signaling through the prolactin receptor predicted by computational modeling
Dynamic regulation of JAK-STAT signaling through the prolactin receptor predicted by computational modeling Open
Introduction Hormones signal through various receptors and cascades of biochemical reactions to expand beta cell mass during pregnancy. Harnessing this phenomenon to treat beta cell dysfunction requires quantitative understanding of the si…